A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia

Exp Eye Res. 1997 Mar;64(3):487-90. doi: 10.1006/exer.1996.0200.
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
  • Aged
  • Child, Preschool
  • Choroideremia / genetics*
  • Codon, Terminator
  • Diagnosis, Differential
  • Female
  • Heterozygote
  • Humans
  • Male
  • Pedigree
  • Point Mutation*
  • Retinitis Pigmentosa / diagnosis

Substances

  • Codon, Terminator