X-linked ocular albinism: prevalence and mutations--a national study
about
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assayMutational analysis of the OA1 gene in ocular albinismNew insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneScanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLCExisting data sources for clinical epidemiology: Danish registries for studies of medical genetic diseases.GPR143 mutations in Chinese patients with ocular albinism type 1.A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinismAbnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic ManifestationDeep intronic GPR143 mutation in a Japanese family with ocular albinismIntracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis.GPR143Gene Mutation Analysis In Pediatric Patients With Albinism
P2860
Q24796615-FF665024-CD2D-4023-AAA9-62DF8C4C2A3DQ28187881-4A084B31-5DEC-4E77-BD84-CEB442E7E590Q28215706-34B9CBB8-7C7A-4B6F-9493-5819FA6A698AQ28244344-88C4FB16-8D45-471F-8C5A-B74EA800BB79Q30662801-11906AAB-8FF8-48B9-BFD4-09DB97057D05Q33674649-849BAF4B-B905-4FED-B615-99492EB33106Q34391379-00421B1D-1800-4E22-9AEC-70BF4B65C844Q35593350-92B6A8FD-7453-4490-817E-B8A86362C206Q36065965-D4E488E9-5DEE-4BFD-890A-168A30EBED6CQ36293656-981F4AA1-9CDF-4437-8D62-7DB34A030402Q43549011-30C5FC82-89F8-418A-9DB9-D81F85C8526BQ57715642-B9E5A41B-9BFB-4BF3-997A-911379EB8290
P2860
X-linked ocular albinism: prevalence and mutations--a national study
description
1998 nî lūn-bûn
@nan
1998 թուականին հրատարակուած գիտական յօդուած
@hyw
1998 թվականին 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
X-linked ocular albinism: prevalence and mutations--a national study
@ast
X-linked ocular albinism: prevalence and mutations--a national study
@en
X-linked ocular albinism: prevalence and mutations--a national study
@nl
type
label
X-linked ocular albinism: prevalence and mutations--a national study
@ast
X-linked ocular albinism: prevalence and mutations--a national study
@en
X-linked ocular albinism: prevalence and mutations--a national study
@nl
prefLabel
X-linked ocular albinism: prevalence and mutations--a national study
@ast
X-linked ocular albinism: prevalence and mutations--a national study
@en
X-linked ocular albinism: prevalence and mutations--a national study
@nl
P3181
P356
P1476
X-linked ocular albinism: prevalence and mutations--a national study
@en
P2093
M Schwartz
T Rosenberg
P2888
P3181
P356
10.1038/SJ.EJHG.5200226
P407
P577
1998-01-01T00:00:00Z