The Trp117Arg mutation of the COCH gene causes deafness in Koreans

Clin Genet. 2010 Apr;77(4):399-403. doi: 10.1111/j.1399-0004.2009.01362.x.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • Arginine / genetics
  • Asian People / genetics*
  • Base Sequence
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Exons / genetics
  • Extracellular Matrix Proteins
  • Family
  • Female
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Proteins / genetics*
  • Republic of Korea
  • Tryptophan / genetics

Substances

  • COCH protein, human
  • Extracellular Matrix Proteins
  • Proteins
  • Tryptophan
  • Arginine