A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss

Laryngoscope

Volumn 120, Issue 12, 2010, Pages 2489-2493

  Hildebrand, Michael S ^a   Gandolfo, Luke ^b   Shearer, A Eliot ^a   Webster, Jennifer A ^c   Jensen, Maren ^d   Kimberling, William J ^a,d   Stephan, Dietrich ^c,e,f   Huygen, Patrick L M ^g   Smith, Richard J H ^a,h   Bahlo, Melanie ^b  

^a UNIVERSITY OF IOWA   (United States)

^b WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^d BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^e ARIZONA ALZHEIMER S CONSORTIUM   (United States)

^f BANNER ALZHEIMER S INSTITUTE   (United States)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF IOWA   (United States)

Author keywords

COCH gene; DFNA9; hearing loss; missense mutation; vestibular dysfunction

Indexed keywords

COCHLIN;

AMNESIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; MALE; MISSENSE MUTATION; NIGHT BLINDNESS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VESTIBULAR DISORDER;

AUDIOMETRY; DISEASE PROGRESSION; DNA; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; UNITED STATES;

EID: 78649661606     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1002/lary.21159     Document Type: Article

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