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Inheritance of the m.3243A>G mutation

The m.3243A>G is the most prevalent pathogenic mtDNA mutation but little is known about its inheritance. We studied 34 families containing 56 mother-child relations and 82 intersibling relations to investigate its transmission. We found a significant correlation between mother and child heteropla...

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Dettagli Bibliografici
Autori principali: de Laat, Paul, Koene, Saskia, Heuvel, Lambert P. W. J. vd, Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565654/
https://ncbi.nlm.nih.gov/pubmed/23430519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_159
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