New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

Hum Mutat. 1996;8(1):93-4. doi: 10.1002/(SICI)1098-1004(1996)8:1<93::AID-HUMU17>3.0.CO;2-M.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genes, Dominant*
  • Humans
  • Introns*
  • Male
  • Mutation*
  • Pedigree
  • RNA Splicing*
  • Retinitis Pigmentosa / ethnology
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*
  • Spain

Substances

  • Rhodopsin