Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.
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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.Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafishDigenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
P2860
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P2860
Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Targeted next-generation seque ...... ecessive retinitis pigmentosa.
@ast
Targeted next-generation seque ...... ecessive retinitis pigmentosa.
@en
type
label
Targeted next-generation seque ...... ecessive retinitis pigmentosa.
@ast
Targeted next-generation seque ...... ecessive retinitis pigmentosa.
@en
prefLabel
Targeted next-generation seque ...... ecessive retinitis pigmentosa.
@ast
Targeted next-generation seque ...... ecessive retinitis pigmentosa.
@en
P2093
P2860
P356
P1433
P1476
Targeted next-generation seque ...... ecessive retinitis pigmentosa.
@en
P2093
Huiping Li
Kanxing Zhao
Weining Rong
Xiaoxing Liu
Xiumei Zhang
Xunlun Sheng
P2860
P2888
P356
10.1038/SREP08927
P407
P577
2015-03-10T00:00:00Z
P5875
P6179
1052966839