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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...
Autores principales: | Verma, Anshuman, Perumalsamy, Vijayalakshmi, Shetty, Shashikant, Kulm, Maigi, Sundaresan, Periasamy |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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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 |
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