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Biochemical analysis of human POLG2 variants associated with mitochondrial disease

Defects in mitochondrial DNA (mtDNA) maintenance comprise an expanding repertoire of polymorphic diseases caused, in part, by mutations in the genes encoding the p140 mtDNA polymerase (POLG), its p55 accessory subunit (POLG2) or the mtDNA helicase (C10orf2). In an exploration of nuclear genes for mt...

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Bibliografske podrobnosti
Main Authors: Young, Matthew J., Longley, Matthew J., Li, Fang-Yuan, Kasiviswanathan, Rajesh, Wong, Lee-Jun, Copeland, William C.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2011
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3131046/
https://ncbi.nlm.nih.gov/pubmed/21555342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr209
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