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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2009
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2690955/
https://ncbi.nlm.nih.gov/pubmed/19503738
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