טוען...
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...
שמור ב:
| הוצא לאור ב: | Diabetes |
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| Main Authors: | , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
American Diabetes Association
2019
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| נושאים: | |
| גישה מקוונת: | 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 |
| תגים: |
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