A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II

Journal of Genetics and Genomics

Volumn 38, Issue 12, 2011, Pages 585-591

  Yan, Xukun ^a,b   Zhang, Tianyu ^a   Wang, Zhengmin ^a   Jiang, Yi ^c   Chen, Yan ^a   Wang, Hongyan ^a   Ma, Duan ^a   Wang, Lei ^a   Li, Huawei ^a  

^a FUDAN UNIVERSITY   (China)

^b CHINESE PLA GENERAL HOSPITAL   (China)

^c Pudong Hospital   (China)

Author keywords

GJB2; Hearing loss; MITF; Mutation; Waardenburg syndrome type II

Indexed keywords

CONNEXIN 26; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MITOCHONDRIAL DNA; RIBOSOME RNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; INFANT; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PROTEIN ANALYSIS; WAARDENBURG SYNDROME;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; AUDIOMETRY; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONNEXINS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; MALE; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA, RIBOSOMAL; SEQUENCE ALIGNMENT; WAARDENBURG'S SYNDROME; YOUNG ADULT;

EID: 84855190121     PISSN: 16738527     EISSN: 18735533     Source Type: Journal    
DOI: 10.1016/j.jgg.2011.11.003     Document Type: Article

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