Article
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
Ophthalmic genetics - 1 Mar 2006
Abouzeid H, Li Y, Maumenee I H, Dharmaraj S, Sundin O
Abstract excerpt
PURPOSE: To identify the genetic basis of recessive inheritance of high hyperopia and Leber congenital amaurosis (LCA) in a family of Middle Eastern origin. MATERIALS AND METHODS: The patients were examined using standard ophthalmic techniques. DNA samples were obtained and genetic linkage was carried out using polymorphic markers flanking the known genes and loci for LCA. Exons were amplified and sequenced....
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