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Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis
An inborn error of metabolism associated with mutations in the human methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene has been identified. The proband presented with SCID, megaloblastic anemia, and neurologic abnormalities, but the causal metabolic impairment is unknown. SCID has been associa...
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| Publié dans: | Proc Natl Acad Sci U S A |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
National Academy of Sciences
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4299200/ https://ncbi.nlm.nih.gov/pubmed/25548164 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1414555112 |
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