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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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| Glavni autori: | , , , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The American Society of Human Genetics
2006
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1380241/ https://ncbi.nlm.nih.gov/pubmed/16400613 |
| Oznake: |
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