Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

PLoS ONE

Volumn 8, Issue 5, 2013, Pages

  Huang, Xiu Feng ^a,b   Xiang, Ping ^a,b   Chen, Jie ^a   Xing, Dong Jun ^a,b   Huang, Na ^a,b   Min, Qingjie ^c   Gu, Feng ^b   Tong, Yi ^d   Pang, Chi Pui ^e   Qu, Jia ^b   Jin, Zi Bing ^a,b  

^a EYE HOSPITAL OF WENZHOU MEDICAL UNIVERSITY   (China)

^b BEIJING HOSPITAL   (China)

^c WENZHOU MEDICAL UNIVERSITY   (China)

^d Fuzhou Southeast Eye Hospital   (China)

^e CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BIOTINYLATION; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRORETINOGRAPHY; EXOME; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC PROCEDURES; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MALE; NEXT GENERATION SEQUENCING; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PILOT STUDY; POLYMERASE CHAIN REACTION; TARGETED EXOME SEQUENCING; USH2A GENE; USHER SYNDROME;

EID: 84878509059     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0063832     Document Type: Article

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