Abstract:Objective
Solute carrier family 19 member 2 (SLC19A2, OMIM *603941) encodes thiamine human transporter 1 (THTR-1), which contributes to bringing thiamine (vitamin B1) into cells. Mutations in SLC19A2 lead to a rare recessive genetic disorder termed thiamine-responsive megaloblastic anemia (TRMA) syndrome.
Methods
An Iranian family with TRMA was investigated by whole-exome sequencing (WES) to determine the genetic cause(s) of … Show more
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