Objective: To compare in detail the severity of illness among patients carrying the variant in exon 1-14 and ORF15 of retinitis pigmentosa GTPase regulator (RPGR).

Methods: Systematic generation sequencing analysis of the data, Sanger sequencing validation and segregation analysis used to identify variants of a pathogen. detailed eye examination, including Electroretinograms, fundus photography, fundus autofluorescence and optical coherence tomography performed. statistical analysis, including adjustment for age and comparison, is based on the level of cross-sectional study to compare the severity of disease between the two groups RPGR variants variants.
Results: Sixty-two variants identified in RPGR in 86 patients from 77 unrelated families. Twenty-nine (37.7%) have the variant in RPGR-exons 1-14 (group 1) and 48 (62.3%) in RPGR-ORF15 (group 2).

Eighty-four patients were diagnosed with X-linked retinitis pigmentosa and only two patients with cone-rod dystrophy. LogMAR visual acuity increased by 0,035 and 0,022 each year on average in group 1 and group 2, respectively. Group 2 patients had visual acuity better with logMAR average difference 0.4378, significant after adjustment for age (P <0.01). Good value log (wide zone ellipsoid) or central retinal thickness was significantly correlated with a variant of the grouping after considering the effect of the variable age (P = 0.56 and 0.40, respectively). ball refractive errors did not differ significantly between the two groups of variants (P = 0.17).

Autofluorescence patterns including ring hyperfluorescent in the posterior pole, spread hyperfluorescence in the macular region, and autofluorescence macular fovea dark with or without hyperfluorescence. Age and the proportion of fundus autofluorescence patterns between the two groups of variants were significantly different (P <0.01).

Conclusion: Patients with a variant in exon 1-14 maintained visual acuity less than patients with ORF15 variants and deteriorate faster. However, the width of the zone ellipsoid, central retinal thickness and refraction were comparable between the two groups. Autofluorescence patterns and variants associated with age grouping.

Genotypic and phenotypic characteristics in Chinese patients with Bardet-Biedl syndrome

Objective: To investigate the complex and different phenotypes in seven Chinese patients diagnosed with Bardet-Biedl syndrome (BBS) and carrying pathogenic mutations.

Methods: Seventy-related BBS patients enrolled. medical history and their eyes examined, and a comprehensive clinical examination, such as fundus photography, optical coherence tomography, and medical imaging, performed. A panel specific enrichment hereditary eye disease based on exome-capture technology used to gather and strengthen the protein-coding regions of the genes targeted 441 hereditary eye disease, followed by high-throughput sequencing using Illumina HiSeq platform.

Results: All patients exhibited a major clinical phenotype BBS. BBS seven mutations found in five patients (BBS7 in two patients, BBS10 in two patients, BBS12 in one patient), for level detection of 71% (5/7). New rate for mutations known BBS is 5: 2.

Blood group antigen B(HEB-29) Antibody
BNC041065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF405S conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC471065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF647 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC471065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF647 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNCAP1065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNCAP1065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC811065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF680R conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC811065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF680R conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC701065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF770 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC701065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF770 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC881065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF488A conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC881065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF488A conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC611065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF660R conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC611065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF660R conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC681065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF568 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC681065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF568 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNCA1065-250	Biotium	250uL	EUR 383
Description: Primary antibody against Blood group antigen B(HEB-29), APC conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNUM1065-50	Biotium	50uL	EUR 395
Description: Primary antibody against Blood group antigen B(HEB-29), 1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC051065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF405M conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC051065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF405M conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNCP1065-250	Biotium	250uL	EUR 383
Description: Primary antibody against Blood group antigen B(HEB-29), PerCP conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNCR1065-250	Biotium	250uL	EUR 383
Description: Primary antibody against Blood group antigen B(HEB-29), RPE conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNUB1065-100	Biotium	100uL	EUR 209
Description: Primary antibody against Blood group antigen B(HEB-29), Concentration: 0.2mg/mL

Blood group antigen B(HEB-29) Antibody
BNUB1065-500	Biotium	500uL	EUR 458
Description: Primary antibody against Blood group antigen B(HEB-29), Concentration: 0.2mg/mL

Blood group antigen B(HEB-29) Antibody
BNC431065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF543 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC431065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF543 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNCB1065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), Biotin conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNCB1065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), Biotin conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNCH1065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNCH1065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC551065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF555 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC551065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF555 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC941065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF594 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC941065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF594 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC801065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF680 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC801065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF680 conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC401065-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood group antigen B(HEB-29), CF640R conjugate, Concentration: 0.1mg/mL

Blood group antigen B(HEB-29) Antibody
BNC401065-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood group antigen B(HEB-29), CF640R conjugate, Concentration: 0.1mg/mL

Blood Group B Antibody
abx140274-10ml	Abbexa	1.0 ml	EUR 300

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC040296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF405S conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC040296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF405S conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC470296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF647 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC470296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF647 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC550296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF555 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC550296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF555 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNCB0296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), Biotin conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNCB0296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), Biotin conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC810296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF680R conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC810296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF680R conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC700296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF770 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC700296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF770 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC880296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF488A conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC880296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF488A conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC940296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF594 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC940296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF594 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC680296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF568 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC680296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF568 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNCA0296-250	Biotium	250uL	EUR 383
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), APC conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNCAP0296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNCAP0296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNUM0296-50	Biotium	50uL	EUR 395
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), 1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNCP0296-250	Biotium	250uL	EUR 383
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), PerCP conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC050296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF405M conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC050296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF405M conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC400296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF640R conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC400296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF640R conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNCR0296-250	Biotium	250uL	EUR 383
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), RPE conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNUB0296-100	Biotium	100uL	EUR 209
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), Concentration: 0.2mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNUB0296-500	Biotium	500uL	EUR 458
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), Concentration: 0.2mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC430296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF543 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC430296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF543 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNCH0296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNCH0296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC610296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF660R conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC610296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF660R conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC800296-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF680 conjugate, Concentration: 0.1mg/mL

Blood Group Antigen B (CD173) (HEB-20) Antibody
BNC800296-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen B (CD173)(HEB-20), CF680 conjugate, Concentration: 0.1mg/mL

anti-Blood Group Kell Antigen
YF-PA12828	Abfrontier	50 ul	EUR 363
Description: Mouse polyclonal to Blood Group Kell Antigen

Monoclonal Blood Group Antigen Lewis B Antibody, Clone: SPM194
AMM00726G	Leading Biology	7 ml	EUR 484
Description: A Monoclonal antibody against Human Blood Group Antigen Lewis B. The antibodies are raised in Mouse and are from clone SPM194. This antibody is applicable in IHC, IF

Anti-Blood Group B antibody
STJ16100984	St John's Laboratory	100 µg	EUR 354

Blood Group Lewis b Antibody
abx140259-01mg	Abbexa	0.1 mg	EUR 328

anti-Blood Group Lewis b
YF-PA11878	Abfrontier	50 ug	EUR 363
Description: Mouse polyclonal to Blood Group Lewis b

anti-Blood Group Lewis b
YF-PA11879	Abfrontier	100 ug	EUR 403
Description: Rabbit polyclonal to Blood Group Lewis b

Anti-Blood Group Kell Antigen (4B10)
YF-MA13914	Abfrontier	100 ug	EUR 363
Description: Mouse monoclonal to Blood Group Kell Antigen

Blood Group H ab Antigen antibody
10R-H103a	Fitzgerald	100 ug	EUR 273
Description: Mouse monoclonal Blood Group H ab Antigen antibody

Monoclonal Blood Group Antigen B (CD173) Antibody, Clone: HEB-20
AMM00790G	Leading Biology	7 ml	EUR 484
Description: A Monoclonal antibody against Human Blood Group Antigen B (CD173). The antibodies are raised in Mouse and are from clone HEB-20. This antibody is applicable in IHC, IF

Anti-Blood Group B Culture supernatant
99-806-L001	ExBio	1.0 ml	EUR 122

Anti-Blood Group Lewis b Purified
11-386-C025	ExBio	0.025 mg	EUR 90

Anti-Blood Group Lewis b Purified
11-386-C100	ExBio	0.1 mg	EUR 140

Anti-Human blood group antigen ABH antibody
STJ16100160	St John's Laboratory	1 mL	EUR 319

Anti-Human blood group antigen A1B antibody
STJ16100161	St John's Laboratory	1 mL	EUR 319

Anti-Human blood group antigen A antibody
STJ16100163	St John's Laboratory	1 mL	EUR 319

Anti-Human blood group antigen A antibody
STJ16100164	St John's Laboratory	1 mL	EUR 319

Blood Group Antigen A (CD173) (33C13) Antibody
BNC041261-100	Biotium	100uL	EUR 199
Description: Primary antibody against Blood Group Antigen A (CD173)(33C13), CF405S conjugate, Concentration: 0.1mg/mL

Blood Group Antigen A (CD173) (33C13) Antibody
BNC041261-500	Biotium	500uL	EUR 544
Description: Primary antibody against Blood Group Antigen A (CD173)(33C13), CF405S conjugate, Concentration: 0.1mg/mL

Rh Blood Group D Antigen (RHD) Antibody
20-abx323345	Abbexa	EUR 314.00 EUR 244.00	100 ug 50 ug

Rh Blood Group D Antigen (RHD) Antibody
20-abx318000	Abbexa	EUR 411.00 EUR 1845.00 EUR 599.00 EUR 182.00 EUR 300.00	100 ug 1 mg 200 ug 20 ug 50 ug

Conclusion: This study shows the spectrum of phenotypic and genotypic BBS patients from China, and the findings underscore the importance of obtaining a comprehensive clinical observations and molecular analyzes to ciliopathies.