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Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India

PURPOSE: Genetic testing for primary mutations m.3460G>A, m.11778G>A, and m.14484T>C in ND1, ND4, and ND6 genes of mitochondrial DNA is the recommended assay for Leber hereditary optic neuropathy (LHON; OMIM 535000). This report discusses the outcome of molecular genetic screening for these...

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Detalles Bibliográficos
Autores principales: Sundaramurthy, Srilekha, Selvakumar, Ambika, Dharani, Vidhya, Soumittra, Nagasamy, Mani, Jayaprakash, Thirumalai, Karthiyayini, Periyasamy, Porkodi, Mathavan, Sinnakaruppan, Sripriya, Sarangapani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8711579/
https://www.ncbi.nlm.nih.gov/pubmed/35035206