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Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.
Background: To characterize the phenotype and genotype of posterior microphthalmos rare syndrome associating (PM), retinitis pigmentosa (RP), and foveoschisis in Spanish family relatives. Methods: The study included five members of the family, which consists of three brothers and their parents.
All members undergo a comprehensive eye exam to best corrected visual acuity, axial length and refractive error, electroretinography (ERG), fundus photography, fluorescein retinal angiography (FA) and optical coherence tomography (OCT). Clinical exome sequencing of more than 6,000 clinically relevant gene (Focus SureSelect exome, Agilent) was performed using Illumina HiSeq 3000 system. variants candidates have been validated and are separated by Sanger sequencing.
Results: The affected siblings have bilateral shortening of the posterior ocular segment and the normal dimensions of the anterior segment. funduskopi, results of ERG, and the FA are compatible with the RP. October macular analysis revealed schisis from outer retinal layers. pipeline data analysis we identified a homozygous frameshift mutation in exon 5 of the membrane frizzled-related protein (MFRP) gene (c.498delC; p.Asn167Thrfs * 25).
Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although it has previously been described, there seems to be some constant (ie, PM and RP) and some variable features (ie, optic nerve drusen and foveoschisis).
The MFRP mutation has also been detected in other studies linking PM with RP. Analysis of a larger series of cases in clinical and genetic level will certainly help us to better understand the phenotype-genotype correlation of this syndrome. To evaluate the ophthalmological and molecular findings in eight patients with a clinical diagnosis of neurofibromatosis type 2 (NF2). New pathological mutation described and variability in phenotype eyes and NF2 allele heterogeneity discussed.
Eye examination carried out in eight NF2 patients, and it includes measurement of visual acuity, biomicroscopy, dilated fundus examination, fundus color photography, infrared photography, and spectral domain optical coherence tomography (SD-OCT). Molecular analysis by whole-exome sequencing performed using DNA derived from mononuclear cells of peripheral blood from each individual.
Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.
Novel mutations in the homozygous splicing ARL2BP cause autosomal recessive retinitis pigmentosa.
Mutations in ARL2BP, encoding ADP-ribosylation factor-like 2 protein binding, was recently implicated as a cause of autosomal recessive retinitis pigmentosa (ARRP), with three variants of homozygous identified to date. In this study, we did a generation sequencing to reveal additional ARRP cases associated with the variant ARL2BP.
Whole-genome sequencing (WGS) or whole exome sequencing (WES) conducted in 1,051 unrelated individuals were recruited for the Consortium of British heritage-retinal diseases and NIHR Bioresource Rare Diseases study research.
Sanger sequencing is used to validate next-generation sequencing data, and analysis of reverse transcriptase (RT) PCR performed on RNA extracted from blood of affected individuals to test for the connection of the change ARL2BP. Detailed phenotyping carried out, including clinical evaluation, electroretinography , fundus photography, fundus autofluorescence imaging, and spectral-domain optical coherence tomography.
Canine Parathyroid Hormone (PTH) ELISA Kit
DLR-PTH-c-96T
DL Develop
96T
EUR 825.6
Description: A competitive inhibition quantitative ELISA assay kit for detection of Canine Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Human Parathyroid Hormone (PTH) ELISA Kit
DLR-PTH-Hu-48T
DL Develop
48T
EUR 574.8
Description: A competitive inhibition quantitative ELISA assay kit for detection of Human Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Human Parathyroid Hormone (PTH) ELISA Kit
DLR-PTH-Hu-96T
DL Develop
96T
EUR 745.2
Description: A competitive inhibition quantitative ELISA assay kit for detection of Human Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Mouse Parathyroid Hormone (PTH) ELISA Kit
DLR-PTH-Mu-48T
DL Develop
48T
EUR 586.8
Description: A competitive inhibition quantitative ELISA assay kit for detection of Mouse Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Mouse Parathyroid Hormone (PTH) ELISA Kit
DLR-PTH-Mu-96T
DL Develop
96T
EUR 762
Description: A competitive inhibition quantitative ELISA assay kit for detection of Mouse Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Porcine Parathyroid Hormone (PTH) ELISA Kit
DLR-PTH-p-48T
DL Develop
48T
EUR 656.4
Description: A competitive inhibition quantitative ELISA assay kit for detection of Porcine Parathyroid Hormone (PTH) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Porcine Parathyroid Hormone (PTH) ELISA Kit
DLR-PTH-p-96T
DL Develop
96T
EUR 858
Description: A competitive inhibition quantitative ELISA assay kit for detection of Porcine Parathyroid Hormone (PTH) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Rat Parathyroid Hormone (PTH) ELISA Kit
DLR-PTH-Ra-48T
DL Develop
48T
EUR 609.6
Description: A competitive inhibition quantitative ELISA assay kit for detection of Rat Parathyroid Hormone (PTH) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Rat Parathyroid Hormone (PTH) ELISA Kit
DLR-PTH-Ra-96T
DL Develop
96T
EUR 793.2
Description: A competitive inhibition quantitative ELISA assay kit for detection of Rat Parathyroid Hormone (PTH) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Bovine Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-b-48Tests
Reddot Biotech
48 Tests
EUR 666
Bovine Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-b-96Tests
Reddot Biotech
96 Tests
EUR 925.2
Canine Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-c-48Tests
Reddot Biotech
48 Tests
EUR 639.6
Canine Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-c-96Tests
Reddot Biotech
96 Tests
EUR 888
Human Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-Hu-48Tests
Reddot Biotech
48 Tests
EUR 573.6
Human Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-Hu-96Tests
Reddot Biotech
96 Tests
EUR 794.4
Mouse Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-Mu-48Tests
Reddot Biotech
48 Tests
EUR 586.8
Mouse Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-Mu-96Tests
Reddot Biotech
96 Tests
EUR 812.4
Porcine Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-p-48Tests
Reddot Biotech
48 Tests
EUR 666
Porcine Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-p-96Tests
Reddot Biotech
96 Tests
EUR 925.2
Rat Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-Ra-48Tests
Reddot Biotech
48 Tests
EUR 613.2
Rat Parathyroid Hormone (PTH) ELISA Kit
RD-PTH-Ra-96Tests
Reddot Biotech
96 Tests
EUR 850.8
Bovine Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-b-48Tests
Reddot Biotech
48 Tests
EUR 696
Bovine Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-b-96Tests
Reddot Biotech
96 Tests
EUR 968.4
Canine Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-c-48Tests
Reddot Biotech
48 Tests
EUR 668.4
Canine Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-c-96Tests
Reddot Biotech
96 Tests
EUR 928.8
Human Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-Hu-48Tests
Reddot Biotech
48 Tests
EUR 600
Human Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-Hu-96Tests
Reddot Biotech
96 Tests
EUR 830.4
Mouse Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-Mu-48Tests
Reddot Biotech
48 Tests
EUR 613.2
Mouse Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-Mu-96Tests
Reddot Biotech
96 Tests
EUR 850.8
Porcine Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-p-48Tests
Reddot Biotech
48 Tests
EUR 696
Porcine Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-p-96Tests
Reddot Biotech
96 Tests
EUR 968.4
Rat Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-Ra-48Tests
Reddot Biotech
48 Tests
EUR 640.8
Rat Parathyroid Hormone (PTH) ELISA Kit
RDR-PTH-Ra-96Tests
Reddot Biotech
96 Tests
EUR 890.4
PTH antibody
70-XG67
Fitzgerald
500 ug
EUR 1322.4
Description: Affinity purified Goat polyclonal PTH antibody
PTH antibody
70-XG68
Fitzgerald
500 ug
EUR 883.2
Description: Affinity purified Goat polyclonal PTH antibody
PTH antibody
10-1579S
Fitzgerald
500 ug
EUR 327.6
Description: Mouse monoclonal PTH antibody
PTH antibody
10-2417
Fitzgerald
250 ug
EUR 418.8
Description: Mouse Monoclonal PTH antibody
PTH antibody
70R-50286
Fitzgerald
100 ul
EUR 292.8
Description: Purified Polyclonal PTH antibody
PTH antibody
70R-21660
Fitzgerald
50 ul
EUR 522
Description: Rabbit polyclonal PTH antibody
PTH protein
30R-2670
Fitzgerald
50 ug
EUR 420
Description: Purified recombinant Human PTH protein
PTH antibody
20-PG01
Fitzgerald
1 ml
EUR 133.2
Description: Goat polyclonal PTH antibody
PTH antibody
20-PG08b
Fitzgerald
100 ul
EUR 159.6
Description: Goat polyclonal PTH antibody
PTH antibody
20-PG09
Fitzgerald
1 ml
EUR 159.6
Description: Goat polyclonal PTH antibody
PTH antibody
20-PG11
Fitzgerald
100 ul
EUR 159.6
Description: Goat polyclonal PTH antibody
PTH antibody
20-PG13
Fitzgerald
100 ul
EUR 249.6
Description: Goat polyclonal PTH antibody
PTH antibody
20-PR01
Fitzgerald
1 ml
EUR 334.8
Description: Rabbit polyclonal PTH antibody
PTH antibody
20-PR08
Fitzgerald
100 ul
EUR 159.6
Description: Rabbit polyclonal PTH antibody
PTH antibody
20-PR09
Fitzgerald
100 ul
EUR 289.2
Description: Rabbit polyclonal PTH antibody
PTH antibody
20-PR10
Fitzgerald
100 ul
EUR 159.6
Description: Rabbit polyclonal PTH antibody
PTH Antibody
33084-100ul
SAB
100ul
EUR 302.4
PTH antibody
10R-2168
Fitzgerald
100 ul
EUR 457.2
Description: Mouse monoclonal PTH antibody
PTH protein
30-AP11
Fitzgerald
100 ug
EUR 580.8
Description: Purified recombinant Human PTH protein
PTH Antibody
CSB-PA562344-100ul
Cusabio
100ul
EUR 379.2
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
pth Antibody
1-CSB-PA358958HA01ENV
Cusabio
Description: A polyclonal antibody against pth. Recognizes pth from Escherichia coli. This antibody is Unconjugated. Tested in the following application: ELISA
PTH Antibody
1-CSB-PA09774A0Rb
Cusabio
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC; Recommended dilution: IHC:1:500-1:1000
PTH Antibody
1-CSB-PA09777A0Rb
Cusabio
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC; Recommended dilution: IHC:1:20-1:200
PTH Antibody
1-CSB-PA003882
Cusabio
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: WB, ELISA;WB:1/500-1/2000.ELISA:1/10000
PTH Antibody
1-CSB-PA018987GA01HU
Cusabio
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB
anti-PTH
LF-PA0258
Abfrontier
100 ul
EUR 400.8
Description: Rabbit polyclonal to Parathyroid heormone
PTH Antibody
CSB-PA562344-
Cusabio
each
EUR 402
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNC041173-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), CF405S conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNC041173-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), CF405S conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNC041174-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), CF405S conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNC041174-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), CF405S conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNC041175-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), CF405S conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNC041175-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), CF405S conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNC041717-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),CF405S conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNC041717-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),CF405S conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNC042295-100
Biotium
100uL
EUR 279.6
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), CF405S conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNC042295-500
Biotium
500uL
EUR 654
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), CF405S conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNCAP1173-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNCAP1173-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNCAP1174-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNCAP1174-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNCAP1175-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNCAP1175-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNCAP1717-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNCAP1717-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNCAP2295-100
Biotium
100uL
EUR 279.6
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNCAP2295-500
Biotium
500uL
EUR 654
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNCB1173-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), Biotin conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNCB1173-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), Biotin conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNCB1174-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), Biotin conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNCB1174-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), Biotin conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNCB1175-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), Biotin conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNCB1175-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), Biotin conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNCH1717-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNCH1717-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNCH2295-100
Biotium
100uL
EUR 279.6
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNCH2295-500
Biotium
500uL
EUR 654
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNCP1173-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), PerCP conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNCP1174-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), PerCP conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNCP1175-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), PerCP conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNCP1717-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),PerCP conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNCP2295-250
Biotium
250uL
EUR 472.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), PerCP conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNCR1173-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), RPE conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNCR1174-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), RPE conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNCR1175-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), RPE conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNCR1717-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),RPE conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNC941173-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), CF594 conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNC941173-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), CF594 conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNC941174-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), CF594 conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNC941174-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), CF594 conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNC941175-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), CF594 conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNC941175-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), CF594 conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNC941717-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),CF594 conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNC941717-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),CF594 conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNC942295-100
Biotium
100uL
EUR 279.6
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), CF594 conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNC942295-500
Biotium
500uL
EUR 654
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), CF594 conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNCA1173-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), APC conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNCA1174-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), APC conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNCA1175-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), APC conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNCA1717-250
Biotium
250uL
EUR 459.6
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),APC conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNCA2295-250
Biotium
250uL
EUR 472.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), APC conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNC811173-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), CF680R conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNC811173-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), CF680R conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNC811174-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), CF680R conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNC811174-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), CF680R conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNC811175-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), CF680R conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNC811175-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), CF680R conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNC811717-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),CF680R conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNC811717-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R),CF680R conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNC812295-100
Biotium
100uL
EUR 279.6
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), CF680R conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNC812295-500
Biotium
500uL
EUR 654
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), CF680R conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNCR2295-250
Biotium
250uL
EUR 472.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), RPE conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNUB1173-100
Biotium
100uL
EUR 250.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), Concentration: 0.2mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNUB1173-500
Biotium
500uL
EUR 549.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), Concentration: 0.2mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNUB1174-100
Biotium
100uL
EUR 250.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), Concentration: 0.2mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1174) Antibody
BNUB1174-500
Biotium
500uL
EUR 549.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1174), Concentration: 0.2mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNUB1175-100
Biotium
100uL
EUR 250.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), Concentration: 0.2mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1175) Antibody
BNUB1175-500
Biotium
500uL
EUR 549.6
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1175), Concentration: 0.2mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNUB1717-100
Biotium
100uL
EUR 250.8
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R), Concentration: 0.2mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R) Antibody
BNUB1717-500
Biotium
500uL
EUR 549.6
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/1717R), Concentration: 0.2mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNCB2295-100
Biotium
100uL
EUR 279.6
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), Biotin conjugate, Concentration: 0.1mg/mL
Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R) Antibody
BNCB2295-500
Biotium
500uL
EUR 654
Description: Primary antibody against Parathyroid Hormone (PTH) (N-Terminal) (PTH/2295R), Biotin conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNCH1173-100
Biotium
100uL
EUR 238.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL
PTH / Parathyroid Hormone (N-Terminal)(PTH/1173) Antibody
BNCH1173-500
Biotium
500uL
EUR 652.8
Description: Primary antibody against PTH / Parathyroid Hormone (N-Terminal)(PTH/1173), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL
homozygous variant in ARL2BP (NM_012106.3) was identified in two unrelated individuals with RP. Varian, c.207 + 1G> A and c.390 + 5G> A, in the donor splice site of intron conserved intron 3 and 5, respectively, are expected to alter pre-mRNA splicing of ARL2BP. RT-PCR that include introns are exposed to reveal that the two variants is due to abnormal splicing ARL2BP in samples from affected individuals.