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Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

Leber congenital amaurosis (LCA), the most early-onset and severe form of all inherited retinal dystrophies, is responsible for congenital blindness. Ten LCA genes have been mapped, and seven of these have been identified. Because some of these genes are involved in the visual cycle, we regarded the...

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Detalhes bibliográficos
Main Authors: Perrault, Isabelle, Hanein, Sylvain, Gerber, Sylvie, Barbet, Fabienne, Ducroq, Dominique, Dollfus, Helene, Hamel, Christian, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182050/
https://ncbi.nlm.nih.gov/pubmed/15322982
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