A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

Am J Hum Genet. 1999 Apr;64(4):1221-5. doi: 10.1086/302332.
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
  • Age of Onset
  • Child
  • Child, Preschool
  • China
  • Deafness / epidemiology
  • Deafness / genetics*
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Genetic Variation / genetics*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Prevalence
  • Retinitis Pigmentosa / epidemiology
  • Retinitis Pigmentosa / genetics*
  • Sequence Deletion / genetics
  • Syndrome
  • United Kingdom

Substances

  • Extracellular Matrix Proteins
  • USH2A protein, human