Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.

Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.

Item
http://www.wikidata.org/entity/Q33870288
Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cellsRetinal dystrophies caused by mutations in RPE65: assessment of visual functionsRod photoreceptor differentiation in fetal and infant human retina.Drosophila king tubby (ktub) mediates light-induced rhodopsin endocytosis and retinal degeneration.A homozygous mutation in the TUB gene associated with retinal dystrophy and obesityCombining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab familyThe Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses.Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
P2860

Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.

Item
http://www.wikidata.org/entity/Q33870288
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին 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
Tubby-like protein 1 homozygou ...... t severe retinal degeneration.
@ast
Tubby-like protein 1 homozygou ...... t severe retinal degeneration.
@en
type
label
Tubby-like protein 1 homozygou ...... t severe retinal degeneration.
@ast
Tubby-like protein 1 homozygou ...... t severe retinal degeneration.
@en
prefLabel
Tubby-like protein 1 homozygou ...... t severe retinal degeneration.
@ast
Tubby-like protein 1 homozygou ...... t severe retinal degeneration.
@en
P1433
P1476
P2093
P304
P31
P407
P433
P478
P577
P698
P1433
P1476
Tubby-like protein 1 homozygou ...... et severe retinal degeneration
@en
P2093
P304
P31
P407
P433
P478
P577
P698