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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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Detalhes bibliográficos
Main Authors: DiMauro, Salvatore, Quinzii, Catarina M., Hirano, Michio
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2007
Assuntos:
Acesso em linha: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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