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Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation

BACKGROUND: The mitochondrial DNA m.3243A>G mutation is one the most prevalent mutation causing mitochondrial disease in adult patients. Several cohort studies have used heteroplasmy levels in urinary epithelial cells (UEC) to correlate the genotype of the patients to the clinical severity. Howev...

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Detalles Bibliográficos
Autores principales:	de Laat, Paul, Rodenburg, Richard J., Smeitink, Jan A. M., Janssen, Mirian C. H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393655/ https://www.ncbi.nlm.nih.gov/pubmed/30516030 http://dx.doi.org/10.1002/mgg3.523

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