Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes

Solute Carrier Family 19 Member 2 (SLC19A2) encodes thiamine transporter 1 (THTR1), which facilitates thiamine transport across the cell membrane. SLC19A2 homozygous mutations have been described as a cause of thiamine-responsive megaloblastic anemia (TRMA), an autosomal recessive syndrome character...

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Bibliografiset tiedot
Julkaisussa:Diabetes
Päätekijät: Jungtrakoon, Prapaporn, Shirakawa, Jun, Buranasupkajorn, Patinut, Gupta, Manoj K., De Jesus, Dario F., Pezzolesi, Marcus G., Panya, Aussara, Hastings, Timothy, Chanprasert, Chutima, Mendonca, Christine, Kulkarni, Rohit N., Doria, Alessandro
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Diabetes Association 2019
Aiheet:
Genetics/Genomes/Proteomics/Metabolomics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6477897/
https://ncbi.nlm.nih.gov/pubmed/30833467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db17-0821
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