Clinical features of patients with GJB2 (connexin 26) mutations: Severity of hearing loss is correlated with genotypes and protein expression patterns

Journal of Human Genetics

Volumn 50, Issue 2, 2005, Pages 76-83

  Oguchi, Tomohiro ^a   Ohtsuka, Akihiro ^a   Hashimoto, Shigenari ^a   Oshima, Aki ^a   Abe, Satoko ^b   Kobayashi, Yumiko ^c   Nagai, Kyoko ^d   Matsunaga, Tatsuo ^e   Iwasaki, Satoshi ^f   Nakagawa, Takashi ^g   Usami, Shin Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Abe ENT Clinic   (Japan)

^c IWATE MEDICAL UNIVERSITY   (Japan)

^d GUNMA UNIVERSITY   (Japan)

^e NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^f HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g KYUSHU UNIVERSITY   (Japan)

Author keywords

235delC; Connexin 26; Deafness; Genotype; GJB2; Phenotype; V37I

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; GENE FREQUENCY; GENE MUTATION; GENETIC STRAIN; GENOTYPE; HEARING LOSS; HUMAN; LANGUAGE DEVELOPMENT; MAJOR CLINICAL STUDY; PHENOTYPE; PROTEIN EXPRESSION; ADOLESCENT; ADULT; CASE CONTROL STUDY; CHILD; COMPARATIVE STUDY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HOSPITALIZATION; INFANT; MALE; MIDDLE AGED; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PROGNOSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEARING LOSS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; PHENOTYPE; PROGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEVERITY OF ILLNESS INDEX;

EID: 20144386649     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0223-7     Document Type: Article

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