First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online

Hum Mutat. 1998;12(3):213.


A study of choroideremia gene was performed in Spanish families affected with this disorder. One abnormal pattern was detected in exon eight corresponding to a new mutation not described before. The mutation was identified as a nonsense mutation S340X.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Choroideremia / genetics*
  • Codon, Nonsense / genetics
  • Humans
  • Mutation / genetics*
  • Spain


  • Codon, Nonsense