New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene
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sameAs
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 albinismScanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLCA novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinismSimultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic ManifestationDeep intronic GPR143 mutation in a Japanese family with ocular albinismIdentification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmusMolecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.Identification and functional validation of a 5' upstream regulatory sequence in the human tyrosinase gene homologous to the locus control region of the mouse tyrosinase gene.
P2860
Q24796615-F28887DF-FF95-461A-8024-3E14633FBD83Q28187881-C68AE896-09F0-420B-B47B-D5085C9AB576Q28244344-3A5226D1-A28C-4CC7-A146-CED999E011B9Q34391379-C9045C36-5FE1-4A44-B75D-7B5D6561B5A4Q36065965-43F04496-B5A8-4B2D-BEED-B7C87BAC337FQ36293656-013AE01C-136D-4D6B-A45A-5DF47116E8C3Q36691929-FE9CEA2C-A357-4CDB-990B-82B62DCB0B8DQ37165124-412A73F9-F87A-4597-90F2-F131D2D13E61Q37648666-CA417057-6825-4973-9729-F53DCCB3036DQ40548256-99028024-074B-4347-8B19-FDEFF17349E1
P2860
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene
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2002 nî lūn-bûn
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2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
New insights into ocular albin ...... polymorphisms of the OA1 gene
@ast
New insights into ocular albin ...... polymorphisms of the OA1 gene
@en
New insights into ocular albin ...... polymorphisms of the OA1 gene
@nl
type
label
New insights into ocular albin ...... polymorphisms of the OA1 gene
@ast
New insights into ocular albin ...... polymorphisms of the OA1 gene
@en
New insights into ocular albin ...... polymorphisms of the OA1 gene
@nl
prefLabel
New insights into ocular albin ...... polymorphisms of the OA1 gene
@ast
New insights into ocular albin ...... polymorphisms of the OA1 gene
@en
New insights into ocular albin ...... polymorphisms of the OA1 gene
@nl
P2860
P3181
P356
P1433
P1476
New insights into ocular albin ...... polymorphisms of the OA1 gene
@en
P2093
William S Oetting
P2860
P3181
P356
10.1002/HUMU.10034
P407
P577
2002-02-01T00:00:00Z