Depletion of mitochondrial DNA in fibroglast 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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Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Ashley, N, O'Rourke, A, Smith, C, Adams, S, Gowda, V, Zeviani, M, Brown, G, Fratter, C, Poulton, J
Μορφή: Journal article
Γλώσσα:English
Έκδοση: Oxford University Press 2008
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