Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family

Hum Mol Genet. 1992 Dec;1(9):769-71. doi: 10.1093/hmg/1.9.769.
No abstract available

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Exons
  • Female
  • Genes, Dominant
  • Humans
  • Lod Score
  • Male
  • Models, Molecular
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Protein Conformation
  • Retinal Pigments / genetics
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / chemistry
  • Rhodopsin / genetics*
  • Sequence Homology, Amino Acid

Substances

  • Retinal Pigments
  • Rhodopsin