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Analysis of COQ2 gene in multiple system atrophy

BACKGROUND: Loss of function COQ2 mutations results in primary CoQ10 deficiency. Recently, recessive mutations of the COQ2 gene have been identified in two unrelated Japanese families with multiple system atrophy (MSA). It has also been proposed that specific heterozygous variants in the COQ2 gene m...

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Bibliografiska uppgifter
I publikationen:Mol Neurodegener
Huvudupphovsmän: Ogaki, Kotaro, Fujioka, Shinsuke, Heckman, Michael G, Rayaprolu, Sruti, Soto-Ortolaza, Alexandra I, Labbé, Catherine, Walton, Ronald L, Lorenzo-Betancor, Oswaldo, Wang, Xue, Asmann, Yan, Rademakers, Rosa, Graff-Radford, Neill, Uitti, Ryan, Cheshire, William P, Wszolek, Zbigniew K, Dickson, Dennis W, Ross, Owen A
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2014
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4233093/
https://ncbi.nlm.nih.gov/pubmed/25373618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1326-9-44
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