Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

PURPOSE: Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness in infants. To date, mutations in 13 known genes and at two other loci have been implicated in LCA causation. An examination of the known genes highlights several processes which, when defective, cause...

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Main Authors: Ramprasad, Vedam Lakshmi, Soumittra, Nagasamy, Nancarrow, Derek, Sen, Parveen, McKibbin, Martin, Williams, Grange A, Arokiasamy, Tharigopala, Lakshmipathy, Praveena, Inglehearn, Chris F, Kumaramanickavel, Govindasamy
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2008
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2268850/
https://ncbi.nlm.nih.gov/pubmed/18334959
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