Three novel connexin26 gene mutations in autosomal recessive nonsyndromic deafness

NeuroReport

Volumn 10, Issue 9, 1999, Pages 1853-1857

  Fuse, Yuka ^a   Doi, Katsumi ^a   Hasegawa, Taro ^a   Sugii, Ayako ^a   Hibino, Hiroshi ^a   Kubo, Takeshi ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

Autosomal recessive; Connexin26 gene; Direct sequencing; Japanese; Mutation; Non syndromic deafness

Indexed keywords

CONNEXIN 26;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONGENITAL DEAFNESS; CONTROLLED STUDY; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; JAPAN; MAJOR CLINICAL STUDY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON; SYNDROME;

EID: 0033597554     PISSN: 09594965     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001756-199906230-00010     Document Type: Article

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