A de novo GJB2 (Connexin 26) mutation, R75W, in a Chinese Pedigree with hearing loss and palmoplantar keratoderma

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 689-692

  Yuan, Yongyi ^a   Huang, Deliang ^a   Yu, Fei ^a   Zhu, Xiuhui ^b   Kang, Dongyang ^a   Yuan, Huijun ^a   Han, Dongyi ^a   Dai, Pu ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b Chifeng Second Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

ADOLESCENT; CASE REPORT; CHINESE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; HEARING LOSS; HUMAN; LETTER; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PALMOPLANTAR KERATODERMA; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PURE TONE AUDIOMETRY;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AUDIOMETRY, PURE-TONE; BASE SEQUENCE; CHINA; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME;

EID: 63749108032     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32461     Document Type: Letter

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