A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus
about
Isomerization 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.The retinal pigment epithelium in health and diseaseBiochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.Genetics for the ophthalmologist.Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.Defective RDH5 does not oxidise 11cROL to 11cRAL and causes RPA
P2860
Q28361881-D3FAAFF5-75B1-4628-BEC6-3876794CDF91Q28367330-D3EF12B4-A584-4663-8A63-1F97A39A7536Q33998365-FF5142CC-3FCB-4C7B-90E8-EFFC1A0EB4EDQ34099124-89C7CE15-4BE5-428F-AC2B-F7C45C5A6694Q34469235-F9EDF2E1-CF30-43C7-9DF3-FBFB5C559C29Q36051712-23F86030-6702-4179-A5D8-2C45E6E5E27BQ36615660-061774E0-FD94-4891-BD8D-B6BDCC116030Q46685245-C36E3C20-3CCE-4850-A1D1-01BD1BE778FDQ50288899-776CD323-4C5D-4D4A-BA32-93E122E49D8C
P2860
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus
description
2000 nî lūn-bûn
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2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
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name
A novel compound heterozygous ...... ient with fundus albipunctatus
@ast
A novel compound heterozygous ...... ient with fundus albipunctatus
@en
A novel compound heterozygous ...... ient with fundus albipunctatus
@nl
type
label
A novel compound heterozygous ...... ient with fundus albipunctatus
@ast
A novel compound heterozygous ...... ient with fundus albipunctatus
@en
A novel compound heterozygous ...... ient with fundus albipunctatus
@nl
prefLabel
A novel compound heterozygous ...... ient with fundus albipunctatus
@ast
A novel compound heterozygous ...... ient with fundus albipunctatus
@en
A novel compound heterozygous ...... ient with fundus albipunctatus
@nl
P2093
P1476
A novel compound heterozygous ...... ient with fundus albipunctatus
@en
P2093
P356
10.1016/S0002-9394(00)00765-0
P407
P577
2000-11-01T00:00:00Z