Article
Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis.
Molecular vision - 2 Jul 1999
Koenekoop R, Pina A L, Loyer M, Davidson J, Robitaille J, Maumenee I, Tombran-Tink J
Abstract excerpt
PURPOSE: Leber congenital amaurosis (LCA) has been mapped to chromosome 17p13.1. From the candidate genes mapped to this region, thus far, only Retinal Guanylate Cyclase (RetGC), has been found to have pathogenic LCA mutations, in families from North African origin. However, early reports, demonstrated eight LCA families linked to 17p13.1, but only four of them showed mutations in RetGC. Mapped in proximity to...
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