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THTRI is expressed widely in human tisseues with particular high expression in skeletal muscles, placenta, heart liver and kidney [168, 170].Mutations in the SLC19A2 (D93H, S143F and G172D) cause malfunctioning of the thiamine transporter THTR1, thiamine deficiency and thiamine responsive megaloblastic anaemia (TRMA) [171, 172]

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doi:10.1002/14651858.CD013232.pub2