A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome
Deoxyguanosine kinase (DGUOK) catalyzes the first step of the mitochondrial deoxypurine salvage pathway, the phosphorylation of purine deoxyribonucleosides. Mutations in the DGUOK gene have been linked to inherited mitochondrial (mt)DNA depletion syndromes, neonatal liver failure, nystagmus,...
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| Автори: | , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Hacettepe University Institute of Child Health
2011-02-01
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| Серія: | The Turkish Journal of Pediatrics |
| Онлайн доступ: | https://turkjpediatr.org/article/view/1725 |
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