Case of Stargardt disease caused by uniparental isodisomy

Arch Ophthalmol. 2006 May;124(5):744-5. doi: 10.1001/archopht.124.5.744.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adolescent
  • Female
  • Genetic Markers
  • Genotype
  • Humans
  • Macular Degeneration / genetics*
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • Uniparental Disomy*
  • Visual Acuity

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • Genetic Markers