Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa

PLoS ONE

Volumn 7, Issue 5, 2012, Pages

  Wang, Yun ^a   Guo, Liheng ^a   Cai, Su Ping ^b   Dai, Meizhi ^c   Yang, Qiaona ^a   Yu, Wenhan ^a   Yan, Naihong ^a   Zhou, Xiaomin ^a   Fu, Jin ^c   Guo, Xinwu ^c   Han, Pengfei ^c   Wang, Jun ^c   Liu, Xuyang ^b  

^a SICHUAN UNIVERSITY   (China)

^b JINAN UNIVERSITY   (China)

^c BGI SHENZHEN   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CATARACT; CHINESE; CLINICAL ARTICLE; CORNEA THICKNESS; CYP4V2 GENE; ELECTRORETINOGRAPHY; EXOME; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY; CHILD; CORNEA; DNA SEQUENCE; EXON; GENETICS; GENOMICS; HETEROZYGOTE; MIDDLE AGED; MUTATION; MYOPIA; PATHOLOGY; PEDIGREE;

CYP4V2 PROTEIN, HUMAN; CYTOCHROME P450;

BASE SEQUENCE; CATARACT; CHILD; CORNEA; CYTOCHROME P-450 ENZYME SYSTEM; EXONS; FEMALE; GENOMICS; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOPIA; PEDIGREE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA;

EID: 84861708894     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0033673     Document Type: Article

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