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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Publicado en:AAPS J
Autores principales: Enogieru, Osatohanmwen J., Koleske, Megan L., Vora, Bianca, Ngo, Huy, Yee, Sook Wah, Chatad, Derrick, Sirota, Marina, Giacomini, Kathleen M.
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer International Publishing 2021
Materias:
Brief/Technical Note
Acceso en línea: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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