Article
Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2.
Molecular genetics and metabolism - 1 Jan 2000
Fleming Judith C, Tartaglini Elena, Kawatsuji Ryosuke, Yao David, Fujiwara Yuko, Bednarski Jeffrey J, Fleming Mark D, Neufeld Ellis J
Abstract excerpt
Thiamine-responsive megaloblastic anemia with diabetes and deafness (TRMA) is an autosomal recessive disease caused by mutations in the high-affinity thiamine transporter gene SLC19A2. To study the role of thiamine transport in the pathophysiology of TRMA syndrome and of each of the component dis...
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