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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Detalhes bibliográficos
Publicado no:EMBO Mol Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2015
Assuntos:
Research Articles
Acesso em linha: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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