EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family

Journal of Human Genetics

Volumn 44, Issue 4, 1999, Pages 261-265

  Usami, Shin Ichi ^a   Abe, Satoko ^a   Shinkawa, Hideichi ^a   Deffenbacher, Karen ^b   Kumar, Shrawan ^b   Kimberling, William J ^b  

^a HIROSAKI UNIVERSITY   (Japan)

^b BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

Author keywords

Branchio oto renal (BOR) syndrome; EYA1; Hearing impairment; Japanese; Mutation

Indexed keywords

ARTICLE; ASIAN; BRANCHIOOTORENAL SYNDROME; EXON; GENE MUTATION; HUMAN; JAPAN; MOLECULAR GENETICS; NONSENSE MUTATION; PHENOTYPE;

AUDIOMETRY; BRANCHIO-OTO-RENAL SYNDROME; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; JAPAN; KIDNEY; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PROTEIN-TYROSINE-PHOSPHATASE; TEMPORAL BONE; TOMOGRAPHY, X-RAY COMPUTED; TRANS-ACTIVATORS;

EID: 0033041720     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050156     Document Type: Article

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