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Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients

BACKGROUND: Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes have been known to cause LCA and among them, RPE65 is a suitable candidate for gene therapy. The mutational screenings of RPE65 and other L...

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Autors principals: Verma, Anshuman, Perumalsamy, Vijayalakshmi, Shetty, Shashikant, Kulm, Maigi, Sundaresan, Periasamy
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3774716/
https://ncbi.nlm.nih.gov/pubmed/24066033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0073172
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