Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.
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Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic dispositionDawn of ocular gene therapy: implications for molecular diagnosis in retinal diseaseWhole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Estimation of copy number alterations from exome sequencing data.Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.Generation and characterization of a murine model of Bietti crystalline dystrophyRNA-Seq: Improving Our Understanding of Retinal Biology and Disease.Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.Insight into the molecular genetics of myopia.Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype.Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
P2860
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P2860
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Exome sequencing identifies co ...... gree with retinitis pigmentosa
@nl
Exome sequencing identifies co ...... ree with retinitis pigmentosa.
@ast
Exome sequencing identifies co ...... ree with retinitis pigmentosa.
@en
Exome sequencing identifies co ...... ree with retinitis pigmentosa.
@en-gb
type
label
Exome sequencing identifies co ...... gree with retinitis pigmentosa
@nl
Exome sequencing identifies co ...... ree with retinitis pigmentosa.
@ast
Exome sequencing identifies co ...... ree with retinitis pigmentosa.
@en
Exome sequencing identifies co ...... ree with retinitis pigmentosa.
@en-gb
altLabel
Exome Sequencing Identifies Co ...... gree with Retinitis Pigmentosa
@en
prefLabel
Exome sequencing identifies co ...... gree with retinitis pigmentosa
@nl
Exome sequencing identifies co ...... ree with retinitis pigmentosa.
@ast
Exome sequencing identifies co ...... ree with retinitis pigmentosa.
@en
Exome sequencing identifies co ...... ree with retinitis pigmentosa.
@en-gb
P2093
P2860
P1433
P1476
Exome sequencing identifies co ...... ree with retinitis pigmentosa.
@en
P2093
Liheng Guo
Meizhi Dai
Naihong Yan
Pengfei Han
Qiaona Yang
Su-Ping Cai
Xiaomin Zhou
Xuyang Liu
P2860
P304
P356
10.1371/JOURNAL.PONE.0033673
P407
P577
2012-05-31T00:00:00Z