Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

We investigated clinical and cellular phenotypes of 24 children with mutations in the catalytic (alpha) subunit of the mitochondrial DNA (mtDNA) gamma polymerase (POLG1). Twenty-one had Alpers syndrome, the commonest severe POLG1 autosomal recessive phenotype, comprising hepatoencephalopathy and oft...

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Hauptverfasser: Ashley, Neil, O'Rourke, Anthony, Smith, Conrad, Adams, Susan, Gowda, Vasantha, Zeviani, Massimo, Brown, Garry K., Fratter, Carl, Poulton, Joanna
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2008
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2486441/
https://ncbi.nlm.nih.gov/pubmed/18487244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn150
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