Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

BACKGROUND: Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause of disease in a large inbred Bedouin Israeli tribe with LCA. METHODS: Thirty in...

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Bibliographic Details
Published in:BMC Med Genet
Main Authors: Gradstein, Libe, Zolotushko, Jenny, Sergeev, Yuri V., Lavy, Itay, Narkis, Ginat, Perez, Yonatan, Guigui, Sarah, Sharon, Dror, Banin, Eyal, Walter, Eyal, Lifshitz, Tova, Birk, Ohad S.
Format: Artigo
Language:Inglês
Published: BioMed Central 2016
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4967317/
https://ncbi.nlm.nih.gov/pubmed/27475985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0314-2
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