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Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by loss-of-function mutations in the gene encoding thymidine phosphorylase (TP). This deficiency of TP leads to increased circulating levels of thymidine (deoxythymidine, dThd) and deoxyuridine (d...
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| Главные авторы: | , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society for Clinical Investigation
2003
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC161426/ https://ncbi.nlm.nih.gov/pubmed/12813027 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200317828 |
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