Article
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.
Ophthalmic genetics - 1 Dec 2002
Gerber Sylvie, Perrault Isabelle, Hanein Sylvain, Shalev Stavit, Zlotogora Joel, Barbet Fabienne, Ducroq Dominique, Dufier Jean, Munnich Arnold, Rozet Jean, Kaplan Josseline
Abstract excerpt
Leber congenital amaurosis (LCA) is a genetically heterogeneous autosomal recessive condition responsible for congenital blindness or greatly impaired vision since birth. Eight LCA loci have been mapped, but only six out of eight genes have been hitherto identified. A genome-wide screen for homozygosity was conducted in a large consanguineous family originating from Palestine, for which no mutation was found in...
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