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Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

We devised a rapid PCR-based method to screen for an A----G transition at nucleotide 8344 of the human mitochondrial tRNA(Lys) gene, which was recently reported, by Shoffner and co-workers, to be associated with myoclonus epilepsy and ragged-red fibers (MERRF), a maternally transmitted mitochondrial...

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Autori principali: Zeviani, M, Amati, P, Bresolin, N, Antozzi, C, Piccolo, G, Toscano, A, DiDonato, S
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1991
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683006/
https://ncbi.nlm.nih.gov/pubmed/1899320
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