Article
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Molecular vision - 4 Sept 2009
Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin M
Abstract excerpt
PURPOSE: To test patients from southern India for the presence of mutations that most commonly cause Leber congenital amaurosis (LCA) in northern America. METHODS: A review of the literature identified 177 unique LCA causing mutations in eight different genes: aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), crumbs homolog 1 (CRB1), cone-rod homeobox (CRX), guanylate cyclase 2D (GUCY2D),...
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