Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

Coenzyme Q(10) (CoQ(10)) deficiency has been associated with an increasing number of clinical phenotypes that respond to CoQ(10) supplementation. In two siblings with encephalomyopathy, nephropathy and severe CoQ(10) deficiency, a homozygous mutation was identified in the CoQ(10) biosynthesis gene C...

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Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: López-Martín, José M., Salviati, Leonardo, Trevisson, Eva, Montini, Giovanni, DiMauro, Salvatore, Quinzii, Catarina, Hirano, Michio, Rodriguez-Hernandez, Angeles, Cordero, Mario D., Sánchez-Alcázar, José A., Santos-Ocaña, Carlos, Navas, Plácido
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2007
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4345105/
https://ncbi.nlm.nih.gov/pubmed/17374725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddm058
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