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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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| Main Authors: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society for Clinical Investigation
2007
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| Fag: | |
| Online adgang: | 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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