A novel mutation of POU3F4 causes congenital profound sensorineural hearing loss in a large Chinese family

Laryngoscope

Volumn 116, Issue 6, 2006, Pages 944-950

  Wang, Qiu Ju ^a,b   Li, Qing Zhong ^a,c   Rao, Shao Qi ^d,e   Zhao, Ya Li ^a   Yuan, Hu ^a   Yang, Wei Yan ^a   Han, Dong Yi ^a   Shen, Yan ^b,f,g  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

^c FUDAN UNIVERSITY   (China)

^d LERNER RESEARCH INSTITUTE   (United States)

^e HARBIN MEDICAL UNIVERSITY   (China)

^f PEKING UNION MEDICAL COLLEGE   (China)

^g INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

Author keywords

Deaf mutism; Missense mutation; Molecular diagnosis; Positional cloning; X linked

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC MODEL; GENETIC POLYMORPHISM; HUMAN; MISSENSE MUTATION; MOLECULAR CLONING; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME LINKED DISORDER; CHINA; CHROMOSOME MAP; FEMALE; GENETICS; MALE; MIDDLE AGED; MUTATION; PENETRANCE; PRESCHOOL CHILD; SEX CHROMOSOME;

POU3F4 PROTEIN, HUMAN; TRANSCRIPTION FACTOR POU;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CHINA; CHROMOSOME MAPPING; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PENETRANCE; POU DOMAIN FACTORS; SEX CHROMOSOMES;

EID: 33745247186     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.MLG.0000215285.53045.24     Document Type: Article

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