Targeted genomic capture and massively parallel sequencing to identify novel variants causing chinese hereditary hearing loss

Journal of Translational Medicine

Volumn 12, Issue 1, 2014, Pages

  Wei, Qinjun ^a   Zhu, Hongmei ^b   Qian, Xuli ^a   Chen, Zhibin ^b   Yao, Jun ^a   Lu, Yajie ^a   Cao, Xin ^a   Xing, Guangqian ^b  

^a NANJING MEDICAL UNIVERSITY   (China)

^b THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

Author keywords

Exome sequencing; Gene mutation; Hearing loss; Targeted genomic capture

Indexed keywords

MICRORNA; GAP JUNCTION PROTEIN;

ACTG1 GENE; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; COCH GENE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOMIC CAPTURE; GJB2 GENE; HEARING IMPAIRMENT; HUMAN; IN FRAME INDEL MUTATION; MALE; MASSIVELY PARALLEL SEQUENCING; MIDDLE AGED; MISSENSE MUTATION; NONSYNDROMIC HEARING LOSS; PATHOGENESIS; PHENOTYPE; POU4F3 GENE; TMC1 GENE; USH2A GENE; WFS1 GENE; ETHNIC GROUP; GENETICS; HUMAN GENOME; MUTATION; PEDIGREE; SEQUENCE ANALYSIS;

CONNEXINS; ETHNIC GROUPS; FEMALE; GENOME, HUMAN; HEARING LOSS; HUMANS; MALE; MUTATION; PEDIGREE; SEQUENCE ANALYSIS;

EID: 84920866494     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/s12967-014-0311-1     Document Type: Article

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