Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON)

PURPOSE: Leber hereditary optic neuropathy (LHON) is a mitochondrial inherited disease characterized by bilateral vision problems, such as reduced visual acuity, dyschromatopsia, and central or centrocecal scotoma. Of these cases, 95% are caused by three mutations in mitochondrial DNA (mtDNA): m.G11...

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Pubblicato in:Mol Vis
Autori principali: Martins, Fábio Tadeu Arrojo, Miranda, Paulo Maurício do Amor Divino, Fernandes, Marcela Scabello Amaral, Maciel-Guerra, Andréa Trevas, Sartorato, Edi Lúcia
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2017
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5524431/
https://ncbi.nlm.nih.gov/pubmed/28761322
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