Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

J Med Genet. 2003 Jan;40(1):45-50. doi: 10.1136/jmg.40.1.45.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Child, Preschool
  • Female
  • Genes, Recessive / genetics*
  • Genetic Markers / genetics
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics*
  • Syndrome

Substances

  • Genetic Markers
  • Membrane Proteins
  • OTOF protein, human