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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492823/
https://www.ncbi.nlm.nih.gov/pubmed/25802402
http://dx.doi.org/10.15252/emmm.201404632

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492823/
https://www.ncbi.nlm.nih.gov/pubmed/25802402
http://dx.doi.org/10.15252/emmm.201404632

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