Article
Analysis of the ABCA4 gene by next-generation sequencing.
Investigative ophthalmology & visual science - 31 Oct 2011
Zernant Jana, Schubert Carl, Im Kate M, Burke Tomas, Brown Carolyn M, Fishman Gerald A, Tsang Stephen H, Gouras Peter, Dean Michael, Allikmets Rando
Abstract excerpt
PURPOSE: To find all possible disease-associated variants in coding sequences of the ABCA4 gene in a large cohort of patients diagnosed with ABCA4-associated diseases. METHODS: One hundred sixty-eight patients who had been clinically diagnosed with Stargardt disease, cone-rod dystrophy, and other ABCA4-associated phenotypes were prescreened for mutations in ABCA4 with the ABCA4 microarray, resulting in finding 1...
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