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The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2
A rare cause of megaloblastic anemia (MA) is thiamine-responsive megaloblastic anemia (TRMA), a genetic disorder caused by mutations in SLC19A2 (encoding THTR1), a thiamine transporter. The study objectives were to (1) functionally characterize selected TRMA-associated SLC19A2 variants and (2) deter...
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| Publicat a: | AAPS J |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer International Publishing
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7921063/ https://ncbi.nlm.nih.gov/pubmed/33649974 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1208/s12248-021-00562-4 |
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