Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy

PURPOSE: Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral vision loss. More than 95% of LHON cases are associated with one of the three main mtDNA mutations: G11778A, T14484C, and G3460A. The other 5% of cases are due to other rare mutations related to t...

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Detalles Bibliográficos
Autores principales: Miranda, Paulo Maurício do Amôr Divino, Matilde da Silva-Costa, Sueli, Balieiro, Juliane Cristina, Fernandes, Marcela Scabello Amaral, Alves, Rogério Marins, Guerra, Andrea Trevas Maciel, Marcondes, Ana Maria, Sartorato, Edi Lúcia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982480/
https://www.ncbi.nlm.nih.gov/pubmed/27582625

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