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The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.
Nat Genet. 1999 Jul;22(3):305-8. doi: 10.1038/10379.
Nat Genet. 1999.
PMID: 10391222
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.
Lagarde WH, Underwood LE, Moats-Staats BM, Calikoglu AS.
Lagarde WH, et al.
Am J Med Genet A. 2004 Mar 15;125A(3):299-305. doi: 10.1002/ajmg.a.20506.
Am J Med Genet A. 2004.
PMID: 14994241
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