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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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Bibliografski detalji
Glavni autori: DiMauro, Salvatore, Quinzii, Catarina M., Hirano, Michio
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2007
Teme:
Online pristup: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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