about
Eight previously unidentified mutations found in the OA1 ocular albinism geneX-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsAn unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneThe ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cellsGPR143 mutations in Chinese patients with ocular albinism type 1.Signaling pathways in melanosome biogenesis and pathologyStructural insights into human GPCR protein OA1: a computational perspective.A nonsense mutation in the tyrosinase gene causes albinism in water buffaloA constitutively active Gαi3 protein corrects the abnormal retinal pigment epithelium phenotype of Oa1-/- miceA novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinismGPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.Deep intronic GPR143 mutation in a Japanese family with ocular albinismIdentification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis.Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.GPR143Gene Mutation Analysis In Pediatric Patients With Albinism
P2860
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P2860
description
1998 nî lūn-bûn
@nan
1998 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
OA1 mutations and deletions in X-linked ocular albinism
@ast
OA1 mutations and deletions in X-linked ocular albinism
@en
OA1 mutations and deletions in X-linked ocular albinism
@nl
type
label
OA1 mutations and deletions in X-linked ocular albinism
@ast
OA1 mutations and deletions in X-linked ocular albinism
@en
OA1 mutations and deletions in X-linked ocular albinism
@nl
prefLabel
OA1 mutations and deletions in X-linked ocular albinism
@ast
OA1 mutations and deletions in X-linked ocular albinism
@en
OA1 mutations and deletions in X-linked ocular albinism
@nl
P2093
P2860
P3181
P356
P1476
OA1 mutations and deletions in X-linked ocular albinism
@en
P2093
D A Pillers
H H Punnett
J Wagstaff
P2860
P3181
P356
10.1086/301776
P407
P577
1998-04-01T00:00:00Z