Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family

International Journal of Pediatric Otorhinolaryngology

Volumn 77, Issue 10, 2013, Pages 1711-1715

  Chen, Dong Ye ^a,b   Chai, Yong Chuan ^a,b   Yang, Tao ^a,b   Wu, Hao ^a,b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

COCH; DFNA9; Hearing impairment; Novel mutation; Vestibular dysfunction

Indexed keywords

COCHLIN; GLYCINE; TRYPTOPHAN; VALINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT NONSYNDROMIC DEAFNESS 9; CALORIC VESTIBULAR TEST; CHINESE; COCH GENE; CODOMINANCE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; GENE; GENE AMPLIFICATION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONSET AGE; PATHOPHYSIOLOGY; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; VESTIBULAR DISORDER;

COCH; DFNA9; HEARING IMPAIRMENT; NOVEL MUTATION; VESTIBULAR DYSFUNCTION;

ASIAN CONTINENTAL ANCESTRY GROUP; AUDIOMETRY, PURE-TONE; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; REFLEX, VESTIBULO-OCULAR;

EID: 84884290385     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2013.07.031     Document Type: Article

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