Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens

Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens

Item
http://www.wikidata.org/entity/Q28140235
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234WRetinal dystrophies caused by mutations in RPE65: assessment of visual functionsIsomerization of 11-cis-retinoids to all-trans-retinoids in vitro and in vivo.Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus.Self-reported quality of life in patients with retinitis pigmentosa and maculopathy of Bothnia typeRetinal degeneration in animal models with a defective visual cycle.CRALBP supports the mammalian retinal visual cycle and cone vision.Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agentsEvolution and the origin of the visual retinoid cycle in vertebrates.A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescensGenetic and phenotypic characteristics of four Chinese families with fundus albipunctatus.Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci.Enhancing Understanding of the Visual Cycle by Applying CRISPR/Cas9 Gene Editing in Zebrafish.
P2860

Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens

Item
http://www.wikidata.org/entity/Q28140235
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Recessive mutations in the RLB ...... f retinitis punctata albescens
@ast
Recessive mutations in the RLB ...... f retinitis punctata albescens
@en
Recessive mutations in the RLB ...... f retinitis punctata albescens
@nl
type
label
Recessive mutations in the RLB ...... f retinitis punctata albescens
@ast
Recessive mutations in the RLB ...... f retinitis punctata albescens
@en
Recessive mutations in the RLB ...... f retinitis punctata albescens
@nl
prefLabel
Recessive mutations in the RLB ...... f retinitis punctata albescens
@ast
Recessive mutations in the RLB ...... f retinitis punctata albescens
@en
Recessive mutations in the RLB ...... f retinitis punctata albescens
@nl
P1433
P1476
P2093
P304
P31
P407
P433
P478
P577
P698
P1433
P1476
Recessive mutations in the RLB ...... f retinitis punctata albescens
@en
P2093
P304
P31
P407
P433
P478
P577
P698