Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss

J Med Genet. 2002 Jul;39(7):502-6. doi: 10.1136/jmg.39.7.502.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence / genetics
  • Amino Acid Substitution / genetics*
  • Female
  • Gene Frequency / genetics
  • Genetic Markers / genetics
  • Glutamine / genetics*
  • Hearing Loss, Sensorineural / congenital
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nuclear Family
  • Pedigree
  • Spain / epidemiology
  • Syndrome

Substances

  • Genetic Markers
  • Membrane Proteins
  • OTOF protein, human
  • Glutamine