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Mutations in coenzyme Q(10) biosynthetic genes

Although it was first described in 1989, our understanding of coenzyme Q(10) (CoQ(10)) deficiency is only now coming of age with the recent first description of the underlying molecular defects. The diverse clinical presentations, classifiable into four major syndromes, raise the question as to whet...

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Autores principales: DiMauro, Salvatore, Quinzii, Catarina M., Hirano, Michio
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2007
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1804338/
https://ncbi.nlm.nih.gov/pubmed/17332886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI31423
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