Ontology highlight
ABSTRACT:
SUBMITTER: Maugeri A
PROVIDER: S-EPMC1287897 | biostudies-literature | 2000 Oct
REPOSITORIES: biostudies-literature
Maugeri A A Klevering B J BJ Rohrschneider K K Blankenagel A A Brunner H G HG Deutman A F AF Hoyng C B CB Cremers F P FP
American journal of human genetics 20000824 4
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 pigmentosa (RP) and AR cone-rod dystrophy (CRD) have been found to have ABCA4 mutations. To evaluate the importance of the ABCA4 gene as a cause of AR CRD, we selected 5 patients with AR CRD and 15 patients from Germany and The Nether ...[more]