title: EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome.
authors.affiliation: Second Department of Pediatrics, Toho University School of Medicine, Toho, Japan.
authors.forename: Taku
authors.initials: T
authors.lastname: Uno
authors.forename: Masako
authors.initials: M
authors.lastname: Sawada
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Kurotaki
authors.forename: Noriaki
authors.initials: N
authors.lastname: Shinomiya
mesh_terms: D001483:Base Sequence; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics* / Q000473:pathology; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007564:Japan; D007668:Kidney / Q000378:metabolism / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009687:Nuclear Proteins; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases