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A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q(10) Deficiency

Ubiquinone (coenzyme Q(10) or CoQ(10)) is a lipid-soluble component of virtually all cell membranes, where it functions as a mobile electron and proton carrier. CoQ(10) deficiency is inherited as an autosomal recessive trait and has been associated with three main clinical phenotypes: a predominantl...

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Détails bibliographiques
Auteurs principaux: Quinzii, Catarina, Naini, Ali, Salviati, Leonardo, Trevisson, Eva, Navas, Plácido, DiMauro, Salvatore, Hirano, Michio
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2006
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380241/
https://ncbi.nlm.nih.gov/pubmed/16400613
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