Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

OBJECTIVE
Joubert syndrome (JS) is caused by mutations in> 34 genes that encode proteins involved with primary (nonmotile) cilia and ciliary basal bodies. This study describes the eye phenotype JS vary in patients with systemic findings and genotype correlation.


METHOD
Patients systematically and prospectively examined at the National Institutes of Health (NIH) Clinical Center in a clinical trial setting special natural history.


METHOD
Ninety-nine patients with JS examined at the center.


METHOD
All patients underwent genotyping for JS, followed by age-appropriate complete eye examination at the NIH Clinical Center, including visual acuity (VA), the behavior of fixation, the position of the lid, the assessment of motility, biomicroscopy slit-lamp, fundus examination widened with an ophthalmoscope directly, and retinoscopy. Color and fundus autofluorescence imaging, wide-field photography Optos (Dunfermline, Scotland, UK), and electroretinography (ERG) is performed whenever possible.


METHOD
The VA (with longitudinal follow-up if possible), ptosis, extraocular muscle function, the status of retina and optic nerve and retinal function measured by ERG.

RESULTS
Among patients with JS with quantitative VA (68/99), the value ranges between 0 logarithm of the minimum angle of resolution (logMAR) (Snellen 20/20) to 1.5 logMAR (Snellen 20/632). Strabismus (71/98), nystagmus (66/99), oculomotor apraxia (60/77), ptosis (30/98), coloboma (28/99), degeneration of the retina (20/83), and optic nerve atrophy (8 / 86) were identified.


CONCLUSION
We recommend routine monitoring for ophthalmologic manifestations of JS begins soon after birth or diagnosis. We were shown visual developmental delay and notes that the timeframe amblyogenic may take significantly longer than typical JS. In general, patients with coloboma less likely to show the degeneration of the retina, and people with retinal degeneration has no coloboma.

Severe retinal degeneration that early and aggressive seen in diseases caused by certain genes, such as CEP290- and related AHI1 JS. Retinal degeneration in INPP5E-, MKS1- and related NPHP1 JS generally lighter. Finally, ptosis surgery can help in the subset of patients with JS; decisions on time and benefit / risk ratio should be made on an individual basis according to the expert consultation.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

rapid seedling establishment and root inscription narrow puddle promote tolerance in spring wheat.

Improving waterlogging tolerance of wheat varieties could alleviate constraints in yield caused by excessive rainfall and poor soil drainage. In this study, we investigate the root and shoot growth and anatomical properties of six spring wheat genotypes with contrasting waterlogging tolerance. Our goal is to identify the characteristics distinguishing tolerant roots of the sensitive genotype.

Two experiments were performed using rhizoboxes and photography for data acquisition. In one experiment, the root growth genotypes studied during seed formation and subsequent waterlogging treatment, starting at the 3-leaf stage and maintained for seven days. In a second experiment, the root and shoot growth of plants that were previously submerged in water compared between the genotypes during the seven days of recovery.

Nestin

E8R1510-19 100ul
EUR 275
Description: Available in various conjugation types.

Nestin

E8R1510-20 100ul
EUR 275
Description: Available in various conjugation types.

Nestin

GT15114 100 ug
EUR 631.2

Nestin

CH22123 100 ul
EUR 490.8

Nestin

CH23001 100 ul
EUR 214.8

Nestin

AP85527 1mg
EUR 2640

Nestin

AP85721 1mg
EUR 2640

Nestin

AP86099 1mg
EUR 2640

Nestin

MO15012 100 ug
EUR 537.6

Nestin

MO15056 100 ug
EUR 522

Nestin

MO22183 100 ug
EUR 522

Nestin

RA22125 100 ul
EUR 522

Nestin antibody

10R-6669 100 ug
EUR 323
Description: Mouse monoclonal Nestin antibody

Nestin antibody

10R-8096 100 ug
EUR 456
Description: Mouse monoclonal Nestin antibody

Nestin antibody

10R-8364 100 ul
EUR 418.8
Description: Mouse monoclonal Nestin antibody

Nestin Antibody

3208-100 each
EUR 430.8

Nestin Antibody

49032 100ul
EUR 499

Nestin Antibody

49032-100ul 100ul
EUR 399.6

Nestin Antibody

49032-50ul 50ul
EUR 286.8

Nestin Antibody

E19-7754-1 50ug/50ul
EUR 145
Description: Available in various conjugation types.

Nestin Antibody

E19-7754-2 100ug/100ul
EUR 225
Description: Available in various conjugation types.

Nestin Antibody

F47834-0.08ML 0.08 ml
EUR 140.25
Description: Nestin is a class VI intermediate filament protein expressed predominantly in stem cells of the neural tube but absent from virtually all differentiated CNS cells. In the CNS, nestin is downregulated upon differentiation and replaced by neurofilaments. Transient expression of nestin has been postulated as a key step committing cells to the neural differentiation pathway. Nestin expression has also been observed in pancreatic hematopoietic stem cell populations.

Nestin Antibody

F47834-0.4ML 0.4 ml
EUR 330.65
Description: Nestin is a class VI intermediate filament protein expressed predominantly in stem cells of the neural tube but absent from virtually all differentiated CNS cells. In the CNS, nestin is downregulated upon differentiation and replaced by neurofilaments. Transient expression of nestin has been postulated as a key step committing cells to the neural differentiation pathway. Nestin expression has also been observed in pancreatic hematopoietic stem cell populations.

Nestin Antibody

E90483 100μg
EUR 255
Description: Available in various conjugation types.

Nestin Antibody

E90484 100ul
EUR 255
Description: Available in various conjugation types.

Nestin Antibody

F53752-0.4ML 0.4 ml
EUR 322.15
Description: Nestin is a class VI intermediate filament protein expressed predominantly in stem cells of the neural tube but absent from virtually all differentiated CNS cells. In the CNS, nestin is downregulated upon differentiation and replaced by neurofilaments. Transient expression of nestin has been postulated as a key step committing cells to the neural differentiation pathway. Nestin expression has also been observed in pancreatic hematopoietic stem cell populations.

NESTIN Antibody

GWB-3BB71D 0.1 mg Ask for price

Nestin Antibody

DF7754 200ul
EUR 420

Nestin Antibody

DF7754-100ul 100ul
EUR 280

Nestin Antibody

DF7754-200ul 200ul
EUR 350

NESTIN Antibody

E301796 200ul
EUR 275
Description: Available in various conjugation types.

NESTIN Antibody

E301797 200ul
EUR 275
Description: Available in various conjugation types.

Nestin Antibody

45133-100ul 100ul
EUR 302.4

Nestin Antibody

45133-50ul 50ul
EUR 224.4

Nestin antibody

70R-NR017 100 ug
EUR 280
Description: Affinity purified Rabbit polyclonal Nestin antibody

Nestin antibody

70R-10645 1 ml
EUR 735
Description: Affinity purified Chicken polyclonal Nestin antibody

Nestin antibody

70R-11692 100 ug
EUR 399
Description: Rabbit polyclonal Nestin antibody

Nestin antibody

70R-5230 50 ug
EUR 467
Description: Rabbit polyclonal Nestin antibody raised against the middle region of NES

Nestin Antibody

ABD7754 100 ug
EUR 525.6

Nestin antibody

CAF50661-100ug 100ug
EUR 312

Nestin, Antibody

GWB-865A58 0.1 mg Ask for price

NESTIN Antibody

GWB-8D0061 0.05 mg Ask for price

Nestin Antibody

GWB-69EF2C 0.05 ml Ask for price

Nestin Antibody

GWB-793EFD 0.05 mg Ask for price

Nestin Antibody

GWB-BAFFA4 0.05 mg Ask for price

Nestin Antibody

R32111 100 ug
EUR 356.15
Description: Nestin is a type VI intermediate filament (IF) protein that in humans is encoded by the NES gene. Distribution and expression of nestin in mitotically active cells suggests it plays a role in regulation of the assembly and disassembly of intermediate filaments, which, together with other structural proteins, participate in remodeling of the cell. The role of nestin in dynamic cells, particularly structural organization of the cell, appears strictly regulated by phosphorylation, especially its integration into heterogeneous intermediate filaments together with vimentin or α-internexin. Furthermore, nestin expression has been extensively used as a marker for central nervous system (CNS) progenitor cells in different contexts, based on observations indicating a correlation between nestin expression and this cell type in vivo.

Nestin Antibody

V7665-100UG 100 ug
EUR 424.15
Description: Nestin is a major intermediate filament (IF) protein of embryonic central nervous system progenitor cells. It is also a component of the dynamic IF network during muscle development, where it polymerizes with Desmin and Vimentin. Nestin co-assembles with Vimentin or -internexin and forms heterodimer coiled-coil molecules which then further assemble into 10 nml IFs. Deletion of the IF consensus rod domain in nestin alters nestin localization in CNS precursor cells and radial glial cells in vivo. Nestin is a marker for neuroepithelial stem cells, glioma cells and tumor endothelial cells during rapid growth. During axon elongation of differentiation neurons, nestin localizes to the growth cones and may play a role in growth cone guidance. In the rat adrenal gland, nestin is expressed by the zona fasciculata and the zona reticularis. Nestin is also expressed by dermatomal cells and by myoblasts during the earliest stages of myogenesis.

Nestin Antibody

V7665-20UG 20 ug
EUR 186.15
Description: Nestin is a major intermediate filament (IF) protein of embryonic central nervous system progenitor cells. It is also a component of the dynamic IF network during muscle development, where it polymerizes with Desmin and Vimentin. Nestin co-assembles with Vimentin or -internexin and forms heterodimer coiled-coil molecules which then further assemble into 10 nml IFs. Deletion of the IF consensus rod domain in nestin alters nestin localization in CNS precursor cells and radial glial cells in vivo. Nestin is a marker for neuroepithelial stem cells, glioma cells and tumor endothelial cells during rapid growth. During axon elongation of differentiation neurons, nestin localizes to the growth cones and may play a role in growth cone guidance. In the rat adrenal gland, nestin is expressed by the zona fasciculata and the zona reticularis. Nestin is also expressed by dermatomal cells and by myoblasts during the earliest stages of myogenesis.

Nestin Antibody

V7665SAF-100UG 100 ug
EUR 424.15
Description: Nestin is a major intermediate filament (IF) protein of embryonic central nervous system progenitor cells. It is also a component of the dynamic IF network during muscle development, where it polymerizes with Desmin and Vimentin. Nestin co-assembles with Vimentin or -internexin and forms heterodimer coiled-coil molecules which then further assemble into 10 nml IFs. Deletion of the IF consensus rod domain in nestin alters nestin localization in CNS precursor cells and radial glial cells in vivo. Nestin is a marker for neuroepithelial stem cells, glioma cells and tumor endothelial cells during rapid growth. During axon elongation of differentiation neurons, nestin localizes to the growth cones and may play a role in growth cone guidance. In the rat adrenal gland, nestin is expressed by the zona fasciculata and the zona reticularis. Nestin is also expressed by dermatomal cells and by myoblasts during the earliest stages of myogenesis.

Nestin Rabbit pAb

E2381211 100ul
EUR 225
Description: Available in various conjugation types.

Nestin Rabbit pAb

A11861-100ul 100 ul
EUR 369.6

Nestin Rabbit pAb

A11861-200ul 200 ul
EUR 550.8

Nestin Rabbit pAb

A11861-20ul 20 ul
EUR 219.6

Nestin Rabbit pAb

A11861-50ul 50 ul
EUR 267.6

Nestin Rabbit mAb

58937 100ul
EUR 339

Nestin Rabbit mAb

E2R381211 100ul
EUR 275
Description: Biotin-Conjugated, FITC-Conjugated , AF350 Conjugated , AF405M-Conjugated ,AF488-Conjugated, AF514-Conjugated ,AF532-Conjugated, AF555-Conjugated ,AF568-Conjugated , HRP-Conjugated, AF405S-Conjugated, AF405L-Conjugated , AF546-Conjugated, AF594-Conjugated , AF610-Conjugated, AF635-Conjugated , AF647-Conjugated , AF680-Conjugated , AF700-Conjugated , AF750-Conjugated , AF790-Conjugated , APC-Conjugated , PE-Conjugated , Cy3-Conjugated , Cy5-Conjugated , Cy5.5-Conjugated , Cy7-Conjugated Antibody

Nestin (NES) Antibody

20-abx301028
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  • 100 ug
  • 1 mg
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  • 20 ug
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Nestin (NES) Antibody

20-abx339203
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  • 100 ul
  • 50 ul

Nestin (NES) Antibody

20-abx339336
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  • 100 ul
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Nestin (NES) Antibody

20-abx100056
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  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
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Nestin (NES) Antibody

20-abx100057
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  • 100 ug
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Nestin (NES) Antibody

20-abx130385
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  • 100 ug
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  • 200 ug
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Nestin (NES) Antibody

20-abx132115
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  • 100 ug
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  • 200 ug
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Nestin (NES) Antibody

20-abx210113
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  • 100 ug
  • 50 ug

Nestin (NES) Antibody

20-abx210684
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  • 100 ul
  • 50 ul

Nestin (NES) Antibody

20-abx177737
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  • 1 mg
  • 200 ug

Nestin (NES) Antibody

20-abx126235
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  • 100 ul
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Nestin (NES) Antibody

abx235664-100ug 100 ug
EUR 577.2

Nestin (NES) Antibody

20-abx217112
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  • 100 ug
  • 50 ug

NESTIN (NES) Antibody

abx122535-100ug 100 ug
EUR 469.2

NESTIN (NES) Antibody

abx122536-100ug 100 ug
EUR 469.2

Nestin (NES) Antibody

20-abx132401
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  • 100 ug
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Nestin (NES) Antibody

20-abx000729
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  • 100 ul
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Nestin (NES) Antibody

abx015937-100ul 100 ul
EUR 493.2

Nestin (NES) Antibody

abx015938-100ug 100 ug
EUR 493.2

Nestin (NES) Antibody

abx031445-400ul 400 ul
EUR 627.6

Nestin (NES) Antibody

abx031445-80l 80 µl
EUR 343.2

Nestin (NES) Antibody

abx015937-1mg 1 mg
EUR 362.5

Nestin (NES) Antibody

abx015938-1mg 1 mg
EUR 362.5

Nestin (NES) Antibody

abx235664-100g 100 µg
EUR 350

Nestin (NES) Antibody

abx301028-100g 100 µg
EUR 362.5

Nestin (NES) Antibody

abx301028-20g 20 µg
EUR 162.5

Nestin (NES) Antibody

abx301028-50g 50 µg
EUR 250

Nestin (NES) Antibody

abx126235-100l 100 µl
EUR 175

Nestin (NES) Antibody

abx126235-1ml 1 ml
EUR 400

Nestin (NES) Antibody

abx126235-200l 200 µl
EUR 275

NESTIN (NES) Antibody

abx122535-100l 100 µl Ask for price

NESTIN (NES) Antibody

abx122535-20l 20 µl
EUR 337.5

NESTIN (NES) Antibody

abx122535-50l 50 µl Ask for price

NESTIN (NES) Antibody

abx122536-100l 100 µl Ask for price

NESTIN (NES) Antibody

abx122536-20l 20 µl
EUR 337.5

NESTIN (NES) Antibody

abx122536-50l 50 µl Ask for price

Nestin (NES) Antibody

abx130385-100l 100 µl
EUR 262.5

Nestin (NES) Antibody

abx130385-1ml 1 ml
EUR 725

Nestin (NES) Antibody

abx130385-200l 200 µl
EUR 337.5

Nestin (NES) Antibody

abx132115-100tests 100 tests
EUR 262.5

Nestin (NES) Antibody

abx132401-01mg 0.1 mg
EUR 262.5

Nestin (NES) Antibody

abx100056-100l 100 µl
EUR 250

Nestin (NES) Antibody

abx100056-1ml 1 ml
EUR 675

Nestin (NES) Antibody

abx100056-200l 200 µl
EUR 312.5

Nestin (NES) Antibody

abx100057-100l 100 µl
EUR 262.5

Nestin (NES) Antibody

abx100057-1ml 1 ml
EUR 687.5

Nestin (NES) Antibody

abx100057-200l 200 µl
EUR 325

Nestin (NES) Antibody

abx240171-100l 100 µl Ask for price

Nestin (NES) Antibody

abx240171-50l 50 µl
EUR 350

Nestin (NES) Antibody

abx031445-400l 400 µl
EUR 525

Nestin (NES) Antibody

abx210113-100l 100 µl
EUR 400

Nestin (NES) Antibody

abx210113-50l 50 µl
EUR 287.5

Nestin (NES) Antibody

abx210684-100l 100 µl
EUR 350

Nestin (NES) Antibody

abx210684-50l 50 µl
EUR 250

Nestin (NES) Antibody

abx339203-100l 100 µl
EUR 350

Nestin (NES) Antibody

abx339203-50l 50 µl
EUR 250

Nestin (NES) Antibody

abx339336-100g 100 µg Ask for price

Nestin (NES) Antibody

abx339336-20g 20 µg
EUR 250

Nestin (NES) Antibody

abx339336-50g 50 µg
EUR 350

Rat NESTIN Antibody

GWB-F986E7 0.1 mg Ask for price

anti- Nestin antibody

FNab05664 100µg
EUR 606.3
Description: Antibody raised against Nestin

Recombinant Nestin (NES)

RPU53811-100ug 100ug
EUR 564.3

Recombinant Nestin (NES)

RPU53811-1mg 1mg
EUR 2501.2

Recombinant Nestin (NES)

RPU53811-50ug 50ug
EUR 453.2

Recombinant Nestin (NES)

RPU42993-100ug 100ug
EUR 554.4

Recombinant Nestin (NES)

RPU42993-1mg 1mg
EUR 2457

Recombinant Nestin (NES)

RPU42993-50ug 50ug
EUR 445.5

Recombinant Nestin (NES)

RPU42994-100ug 100ug
EUR 431.2

Recombinant Nestin (NES)

RPU42994-1mg 1mg
EUR 1911

Recombinant Nestin (NES)

RPU42994-50ug 50ug
EUR 346.5

Recombinant Nestin (NES)

RPU58987-100ug 100ug
EUR 947.4

Recombinant Nestin (NES)

RPU58987-1mg 1mg
EUR 3731.5

Recombinant Nestin (NES)

RPU58987-50ug 50ug
EUR 592

Recombinant Nestin (NES)

RPA500Hu01 10ug
EUR 140

Recombinant Nestin (NES)

4-RPA500Hu01
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  • 100 ug
  • 10ug
  • 1 mg
  • 200 ug
  • 500 ug
  • 50ug
  • 5 mg
Description: Recombinant Human Nestin expressed in: E.coli

Recombinant Nestin (NES)

RPA500Mu01 10ug
EUR 180

Recombinant Nestin (NES)

4-RPA500Mu01
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  • 100 ug
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  • 5 mg
Description: Recombinant Mouse Nestin expressed in: E.coli

Recombinant Nestin (NES)

RPA500Ra01 10ug
EUR 183

Recombinant Nestin (NES)

4-RPA500Ra01
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  • 100 ug
  • 10ug
  • 1 mg
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  • 5 mg
Description: Recombinant Rat Nestin expressed in: E.coli

Nestin Blocking Peptide

33R-5261 100 ug
EUR 119
Description: A synthetic peptide for use as a blocking control in assays to test for specificity of NES antibody, catalog no. 70R-5230

Nestin Blocking Peptide

DF7754-BP 1mg
EUR 234

Rat Nestin ELISA kit

E02N0075-192T 192 tests
EUR 1524
Description: A competitive ELISA for quantitative measurement of Rat Nestin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.

Rat Nestin ELISA kit

E02N0075-48 1 plate of 48 wells
EUR 624
Description: A competitive ELISA for quantitative measurement of Rat Nestin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.

Rat Nestin ELISA kit

E02N0075-96 1 plate of 96 wells
EUR 822
Description: A competitive ELISA for quantitative measurement of Rat Nestin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.

Dog Nestin ELISA kit

E08N0075-192T 192 tests
EUR 1524
Description: A competitive ELISA for quantitative measurement of Canine Nestin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.

Dog Nestin ELISA kit

E08N0075-48 1 plate of 48 wells
EUR 624
Description: A competitive ELISA for quantitative measurement of Canine Nestin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.

Dog Nestin ELISA kit

E08N0075-96 1 plate of 96 wells
EUR 822
Description: A competitive ELISA for quantitative measurement of Canine Nestin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.

Pig Nestin ELISA kit

E07N0075-192T 192 tests
EUR 1524
Description: A competitive ELISA for quantitative measurement of Porcine Nestin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.

Pig Nestin ELISA kit

E07N0075-48 1 plate of 48 wells
EUR 624
Description: A competitive ELISA for quantitative measurement of Porcine Nestin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.

In two experiments harvest, root segments were sampled to investigate the differences in the genotype of the root of cross-sectional area, the area of ​​the root cortex, the area of ​​the inscription and the percentage of aerenchyma. The results indicate that tolerance, in contrast to the sensitive genotype, seminal roots develop more quickly in the phase formation of seedlings and nodal roots during treatment puddles. NK93602 and Bjarne genotype best performance.

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