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Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis
Coenzyme Q(10) (CoQ(10)) deficiency has been associated with an increasing number of clinical phenotypes that respond to CoQ(10) supplementation. In two siblings with encephalomyopathy, nephropathy and severe CoQ(10) deficiency, a homozygous mutation was identified in the CoQ(10) biosynthesis gene C...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Mol Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2007
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4345105/ https://ncbi.nlm.nih.gov/pubmed/17374725 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddm058 |
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