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

Pediatrics International

Volumn 46, Issue 5, 2004, Pages 615-617

  Uno, Taku ^a   Sawada, Masako ^a   Kurotaki, Toshiaki ^a   Shinomiya, Noriaki ^a  

^a TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Branchial arch anomaly; Branchial otic syndrome; Branchio oto renal syndrome; EYA1 gene

Indexed keywords

ARTICLE; BRANCHIOOTORENAL SYNDROME; CASE REPORT; CHILD; CONDUCTION DEAFNESS; EYA1 GENE; GENE; HUMAN; JAPAN; KIDNEY HYPOPLASIA; MALE; NONSENSE MUTATION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PURE TONE AUDIOMETRY;

BASE SEQUENCE; BRANCHIO-OTO-RENAL SYNDROME; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; JAPAN; KIDNEY; MAGNETIC RESONANCE IMAGING; MALE; NUCLEAR PROTEINS; PEDIGREE; PROTEIN-TYROSINE-PHOSPHATASE; TRANS-ACTIVATORS;

EID: 7044263218     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1442-200x.2004.01935.x     Document Type: Article

References (10)

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