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

AuthorsTaku Uno, Masako Sawada, Toshiaki Kurotaki, Noriaki Shinomiya
JournalPediatrics international : official journal of the Japan Pediatric Society (Pediatr Int) Vol. 46 Issue 5 Pg. 615-7 (Oct 2004) ISSN: 1328-8067 [Print] Australia
PMID15491396 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Codon, Nonsense
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Trans-Activators
  • EYA1 protein, human
  • Protein Tyrosine Phosphatases
Topics
  • Base Sequence
  • Branchio-Oto-Renal Syndrome (genetics, pathology)
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Japan
  • Kidney (metabolism, pathology)
  • Magnetic Resonance Imaging
  • Male
  • Nuclear Proteins
  • Pedigree
  • Protein Tyrosine Phosphatases
  • Trans-Activators (genetics)

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