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

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 dyst...

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Main Authors: Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., Hoyng, Carel B., Cremers, Frans P. M.
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2000
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287897/
https://ncbi.nlm.nih.gov/pubmed/10958761
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