Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay

Clin Genet. 2004 Nov;66(5):478-80. doi: 10.1111/j.1399-0004.2004.00318.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Branchio-Oto-Renal Syndrome / genetics*
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis / methods*
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Mutation / genetics*
  • Nuclear Proteins
  • Nucleic Acid Denaturation
  • Protein Tyrosine Phosphatases
  • Trans-Activators / genetics*

Substances

  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Trans-Activators
  • EYA1 protein, human
  • Protein Tyrosine Phosphatases