A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.
about
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retinaExome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.Quantitative genomics of 30 complex phenotypes in Wagyu x Angus F₁ progeny.Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndromeMajor review: Molecular genetics of primary open-angle glaucoma.Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.Multifocal electroretinographic evaluation of macular function in acute posterior multifocal placoid pigment epitheliopathy.Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.
P2860
Q28305909-D028CD30-E35C-44BD-AE25-7DC8480CEF0EQ30406706-965D5F9C-76DE-481C-955D-EC838AF34487Q34590750-8F9ED32B-2321-42C1-94E6-B318F4DF9A95Q36063717-96DD3694-F3EA-4A20-8CA0-C6DB34EAD153Q37363953-06C0BA44-8A6B-4FEF-ACC6-83F381ED3A42Q39303267-7AAF504B-875B-4237-B9A3-2FFA44E14D07Q41558542-E1C869A8-B390-4A05-AA80-A2F066BEA2D0Q42676801-326A8F7D-D59E-4D4D-B8D2-066012DA5E61Q46357722-4CB71B93-BAC8-48D7-8257-1F96D99A5840Q51060364-D9530FC3-8B76-43C1-AD8D-B3E81A6903FE
P2860
A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A novel haplotype with the R34 ...... t drusen in a Japanese family.
@ast
A novel haplotype with the R34 ...... t drusen in a Japanese family.
@en
type
label
A novel haplotype with the R34 ...... t drusen in a Japanese family.
@ast
A novel haplotype with the R34 ...... t drusen in a Japanese family.
@en
prefLabel
A novel haplotype with the R34 ...... t drusen in a Japanese family.
@ast
A novel haplotype with the R34 ...... t drusen in a Japanese family.
@en
P2093
P2860
P356
P1476
A novel haplotype with the R34 ...... t drusen in a Japanese family.
@en
P2093
Hiroshi Tsuneoka
Hisashi Yamada
Kang Zhang
Matthew Bedell
Takaaki Hayashi
Tomokazu Takeuchi
P2860
P304
P356
10.1167/IOVS.09-4497
P407
P577
2009-10-22T00:00:00Z