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A real-time ARMS PCR/high-resolution melt curve assay for the detection of the three primary mitochondrial mutations in Leber’s hereditary optic neuropathy

PURPOSE: Approximately 95% of patients who are diagnosed with Leber’s hereditary optic neuropathy (LHON) have one of three mitochondrial point mutations responsible for the disease, G3460A, G11778A, and T14484C. The purpose of this study was to develop a novel multiplex real-time amplification-refra...

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Detalles Bibliográficos
Autores principales: Ryan, Siobhan Eustace, Ryan, Fergus, O’Dwyer, Veronica, Neylan, Derek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5063091/
https://www.ncbi.nlm.nih.gov/pubmed/27746671