160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa

Hum Hered. 1998 Sep-Oct;48(5):237-40. doi: 10.1159/000022809.

Abstract

Mutations in the rhodopsin gene were studied in 23 unrelated Spanish patients with sporadic retinitis pigmentosa (RP). A codon 160 Thr C-->A transition was found in 4 of the 23 patients vs. none of the 159 controls (p < 0.001) suggesting that this mutation may be an informative marker in RP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exons
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*
  • Threonine / genetics*

Substances

  • Threonine
  • Rhodopsin