Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families

Clin Genet. 2008 Apr;73(4):391-4. doi: 10.1111/j.1399-0004.2008.00972.x. Epub 2008 Feb 27.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Amino Acid Sequence
  • Base Sequence
  • China
  • Extracellular Matrix Proteins
  • Female
  • Genes, Dominant
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Protein Structure, Tertiary / genetics
  • Proteins / genetics*

Substances

  • COCH protein, human
  • Extracellular Matrix Proteins
  • Proteins