Novel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases
Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss. Mutations in the thiamine transporter gene, solute carrier family 19, member 2 (SLC19A2), have been associated with TRMA. Thre...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Galenos Publishing
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814536/ |