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Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B
BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a progressive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine and a characteristic clinical phenotype. OBJECTIVE: To investigate the molecular basis of...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2747647/ https://ncbi.nlm.nih.gov/pubmed/19667227 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2009.139 |
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