Φορτώνει......
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
Complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a minority of complex I–deficient patients. We investig...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society for Clinical Investigation
2004
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC516258/ https://ncbi.nlm.nih.gov/pubmed/15372108 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200420683 |
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