Article
Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy.
Investigative ophthalmology & visual science - 1 Jul 2003
Schmidt Silke, Postel Eric A, Agarwal Anita, Allen I Coy, Walters Shaune N, De la Paz Monica A, Scott William K, Haines Jonathan L, Pericak-Vance Margaret A, Gilbert John R
Abstract excerpt
PURPOSE: Age-related maculopathy (ARM) is one of the most common causes of blindness in older adults worldwide. Sequence variants in a gene coding for a retina-specific ATP-binding cassette (ABCA4) transporter protein, which is responsible for a phenotypically similar Mendelian form of retinal disease, were proposed to increase the risk of ARM. To examine the potential relationship of ABCA4 sequence variation and...
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