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Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population

PURPOSE: The purpose of this study was to perform a comprehensive survey of all known Leber congenital amaurosis (LCA) genes and loci in a collection of 37 consanguineous LCA families from Saudi Arabia. METHODS: Direct PCR and sequencing were used to screen 13 known LCA genes (GUCY2D, CRX, RPE65, TU...

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Detalhes bibliográficos
Main Authors: Li, Yumei, Wang, Hui, Peng, Jianlan, Gibbs, Richard A., Lewis, Richard Alan, Lupski, James R., Mardon, Graeme, Chen, Rui
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2695987/
https://ncbi.nlm.nih.gov/pubmed/18936139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.08-2589
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