Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

Nat Genet. 1998 Jan;18(1):11-2. doi: 10.1038/ng0198-11.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Female
  • Frameshift Mutation*
  • Genes, Recessive
  • Homozygote*
  • Humans
  • Macular Degeneration / genetics
  • Male
  • Pedigree
  • Retinitis Pigmentosa / genetics*

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters