Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1
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sameAs
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1Intracellular transport of fat-soluble vitamins A and EBothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234WDisease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactionsVMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE familyRelease of 11-cis-retinal from cellular retinaldehyde-binding protein by acidic lipids.Self-reported quality of life in patients with retinitis pigmentosa and maculopathy of Bothnia typeThe retinal pigment epithelium in health and diseaseClinical features of a Japanese case with Bothnia dystrophy.Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)CRALBP supports the mammalian retinal visual cycle and cone vision.Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohortInvestigating 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
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P2860
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Fundus albipunctatus and retin ...... ith an R150Q mutation in RLBP1
@ast
Fundus albipunctatus and retin ...... ith an R150Q mutation in RLBP1
@en
Fundus albipunctatus and retin ...... ith an R150Q mutation in RLBP1
@nl
type
label
Fundus albipunctatus and retin ...... ith an R150Q mutation in RLBP1
@ast
Fundus albipunctatus and retin ...... ith an R150Q mutation in RLBP1
@en
Fundus albipunctatus and retin ...... ith an R150Q mutation in RLBP1
@nl
prefLabel
Fundus albipunctatus and retin ...... ith an R150Q mutation in RLBP1
@ast
Fundus albipunctatus and retin ...... ith an R150Q mutation in RLBP1
@en
Fundus albipunctatus and retin ...... ith an R150Q mutation in RLBP1
@nl
P2093
P2860
P1433
P1476
Fundus albipunctatus and retin ...... ith an R150Q mutation in RLBP1
@en
P2093
A A Al-Rajhi
J C Cavender
J R Lupski
P2860
P304
P356
10.1034/J.1399-0004.2001.590607.X
P407
P577
2001-06-01T00:00:00Z