Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
about
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese populationTargeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian PopulationTargeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.Biological functions of fucose in mammals.Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
P2860
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P2860
Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
description
2010 nî lūn-bûn
@nan
2010 թուականին հրատարակուած գիտական յօդուած
@hyw
2010 թվականին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Identification of a novel homo ...... recessive retinitis pigmentosa
@ast
Identification of a novel homo ...... recessive retinitis pigmentosa
@en
Identification of a novel homo ...... recessive retinitis pigmentosa
@en-gb
Identification of a novel homo ...... recessive retinitis pigmentosa
@nl
type
label
Identification of a novel homo ...... recessive retinitis pigmentosa
@ast
Identification of a novel homo ...... recessive retinitis pigmentosa
@en
Identification of a novel homo ...... recessive retinitis pigmentosa
@en-gb
Identification of a novel homo ...... recessive retinitis pigmentosa
@nl
prefLabel
Identification of a novel homo ...... recessive retinitis pigmentosa
@ast
Identification of a novel homo ...... recessive retinitis pigmentosa
@en
Identification of a novel homo ...... recessive retinitis pigmentosa
@en-gb
Identification of a novel homo ...... recessive retinitis pigmentosa
@nl
P2093
P2860
P3181
P356
P1433
P1476
Identification of a novel homo ...... recessive retinitis pigmentosa
@en
P2093
Guohua Yang
Jing Zhang
Qing K Wang
Yukan Huang
Zhaohui Tang
P2860
P2888
P3181
P356
10.1186/1471-2350-11-121
P407
P577
2010-01-01T00:00:00Z
P5875
P6179
1034984069