Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

Article, Other literature type English OPEN
Maugeri, Alessandra; Klevering, B. Jeroen; Rohrschneider, Klaus; Blankenagel, Anita; Brunner, Han G.; Deutman, August F.; Hoyng, Carel B.; Cremers, Frans P.M.; (2000)
  • Publisher: Elsevier BV
  • Journal: The American Journal of Human Genetics,volume 67,issue 4,pages960-966 (issn: 0002-9297)
  • Related identifiers: doi: 10.1086/303079, pmc: PMC1287897
  • Subject: Genetics(clinical) | Genetics | Report
    mesheuropmc: eye diseases

The photoreceptor cell–specific ATP-binding cassette transporter gene (ABCA4; previously denoted “ABCR”) is mutated in most patients with autosomal recessive (AR) Stargardt disease (STGD1) or fundus flavimaculatus (FFM). In addition, a few cases with AR retinitis pigmen... View more
Share - Bookmark