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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Young, Matthew J., Longley, Matthew J., Li, Fang-Yuan, Kasiviswanathan, Rajesh, Wong, Lee-Jun, Copeland, William C.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2011
Gaiak:
Articles
Sarrera elektronikoa: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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