Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

The m.3243A > G mutation has become known as the MELAS mutation. However, many other clinical phenotypes associated with this mutation have been described, most frequently being maternally inherited diabetes and deafness (MIDD). The m.3243A > G mutation, can be detected in virtually all tissue...

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Bibliographische Detailangaben
Hauptverfasser: de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Netherlands 2012
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3470685/
https://ncbi.nlm.nih.gov/pubmed/22403016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-012-9465-2
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