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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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Detalhes bibliográficos
Main Authors: Verma, Anshuman, Perumalsamy, Vijayalakshmi, Shetty, Shashikant, Kulm, Maigi, Sundaresan, Periasamy
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Acesso em linha: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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