Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization

PURPOSE: To determine the retinal disease expression in the rare form of Leber congenital amaurosis (LCA) caused by Lebercilin (LCA5) mutation. METHODS: Two young unrelated LCA patients, ages six years (P1) and 25 years (P2) at last visit, both with the same homozygous mutation in the LCA5 gene, wer...

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Detalles Bibliográficos
Autores principales: Jacobson, Samuel G., Aleman, Tomas S., Cideciyan, Artur V., Sumaroka, Alexander, Schwartz, Sharon B., Windsor, Elizabeth A.M., Swider, Malgorzata, Herrera, Waldo, Stone, Edwin M.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2690955/
https://www.ncbi.nlm.nih.gov/pubmed/19503738

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