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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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Detalles Bibliográficos
Autores principales:	Enogieru, Osatohanmwen J., Koleske, Megan L., Vora, Bianca, Ngo, Huy, Yee, Sook Wah, Chatad, Derrick, Sirota, Marina, Giacomini, Kathleen M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2021
Materias:	Brief/Technical Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7921063/ https://www.ncbi.nlm.nih.gov/pubmed/33649974 http://dx.doi.org/10.1208/s12248-021-00562-4

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