The clinical heterogeneity of coenzyme Q(10) deficiency results from genotypic differences in the Coq9 gene

Primary coenzyme Q(10) (CoQ(10)) deficiency is due to mutations in genes involved in CoQ biosynthesis. The disease has been associated with five major phenotypes, but a genotype–phenotype correlation is unclear. Here, we compare two mouse models with a genetic modification in Coq9 gene (Coq9(Q95X) a...

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Vydáno v:EMBO Mol Med
Hlavní autoři: Luna-Sánchez, Marta, Díaz-Casado, Elena, Barca, Emanuele, Tejada, Miguel Ángel, Montilla-García, Ángeles, Cobos, Enrique Javier, Escames, Germaine, Acuña-Castroviejo, Dario, Quinzii, Catarina M, López, Luis Carlos
Médium: Artigo
Jazyk:Inglês
Vydáno: BlackWell Publishing Ltd 2015
Témata:
Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4492823/
https://ncbi.nlm.nih.gov/pubmed/25802402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201404632
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