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A novel mutation in the <i>SLC19A2</i> gene in a Tunisian family with thiamine‐responsive megaloblastic anaemia, diabetes and deafness syndrome

1 May 2001

Abstract excerpt

Thiamine-responsive megaloblastic anaemia (TRMA) syndrome with diabetes and deafness was found in two patients from a Tunisian kindred. The proband was homozygous for a novel mutation, 287delG, in the high-affinity thiamine transporter gene, SLC19A2. We demonstrated that fibroblasts from this patient exhibited defective thiamine transport. These data confirm that the SLC19A2 gene is the high-affinity thiamine...

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PMID: 11380424
DOI: 10.1046/j.1365-2141.2001.02774.x

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