Article
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
Molecular genetics and metabolism - 1 Jun 2000
Sohocki M M, Perrault I, Leroy B P, Payne A M, Dharmaraj S, Bhattacharya S S, Kaplan J, Maumenee I H, Koenekoop R, Meire F M, Birch D G, Heckenlively J R, Daiger S P
Abstract excerpt
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited blindness in children. LCA is usually inherited in an autosomal recessive fashion, although rare dominant cases have been reported. One form of LCA, LCA4, maps to chromosome 17p13 and is genetically distinct from other forms of LCA. We recently identified the gene associated with LCA4,...
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