The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2
The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2
About this item
Full title
Author / Creator
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
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
) determine whether current prescri...
Alternative Titles
Full title
The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7921063
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7921063
Other Identifiers
ISSN
1550-7416
E-ISSN
1550-7416
DOI
10.1208/s12248-021-00562-4
