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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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Detalles Bibliográficos
Autores principales: Verma, Anshuman, Perumalsamy, Vijayalakshmi, Shetty, Shashikant, Kulm, Maigi, Sundaresan, Periasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774716/
https://www.ncbi.nlm.nih.gov/pubmed/24066033
http://dx.doi.org/10.1371/journal.pone.0073172