Title : A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.

Pub. Date : 2001 May

PMID : 11380424






2 Functional Relationships(s)
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Protein Name
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1 A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome. Thiamine solute carrier family 19 member 2 Homo sapiens
2 These data confirm that the SLC19A2 gene is the high-affinity thiamine carrier and that this novel mutation is responsible for TRMA syndrome. Thiamine solute carrier family 19 member 2 Homo sapiens