A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

Acta Oto-Laryngologica

Volumn 125, Issue 11, 2005, Pages 1189-1194

  Noguchi, Yoshihiro ^a   Yashima, Takatoshi ^a   Hatanaka, Akio ^a   Uzawa, Masamichi ^a   Yasunami, Michio ^a   Kimura, Akinori ^a   Kitamura, Ken ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

DFNA6 14; Low tone deafness; Sensorineural hearing loss; Wolfram syndrome type 1 gene

Indexed keywords

ALANINE; GENOMIC DNA; THREONINE;

ADOLESCENT; ADULT; ARTICLE; AUDIOMETRY; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME; CODON; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN EXPERIMENT; JAPAN; MALE; PATHOPHYSIOLOGY; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; WOLFRAM SYNDROME;

ADOLESCENT; ADULT; ALANINE; AMINO ACID SUBSTITUTION; AUDITORY THRESHOLD; CHILD; CODON; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HEARING TESTS; HETEROZYGOTE DETECTION; HUMANS; MALE; MEMBRANE PROTEINS; PEDIGREE; PHENOTYPE; THREONINE; WOLFRAM SYNDROME;

EID: 29144501570     PISSN: 00016489     EISSN: None     Source Type: Journal    
DOI: 10.1080/00016480510044232     Document Type: Article

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