Null ABCA4 gene mutations found in Japanese patients with panretinal degeneration

Jpn J Ophthalmol. 2006 Mar-Apr;50(2):179-81. doi: 10.1007/s10384-005-0279-8.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adult
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Japan
  • Male
  • Mutation*
  • Pedigree
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / pathology
  • Rod Cell Outer Segment / pathology

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters