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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Diabetes |
|---|---|
| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Diabetes Association
2019
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| Θέματα: | |
| Διαθέσιμο Online: | 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 |
| Ετικέτες: |
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