Article
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
Human mutation - 1 Jan 2000
Raz T, Labay V, Baron D, Szargel R, Anbinder Y, Barrett T, Rabl W, Viana M B, Mandel H, Baruchel A, Cayuela J M, Cohen N
Abstract excerpt
Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder with a triad of symptoms: megaloblastic anemia, deafness, and non-type 1 diabetes mellitus. Occasionally, cardiac abnormalities and abnormalities of the optic nerve and retina occur as well. Patients with TRMA often respond to treatment with pharmacological doses of thiamine. Recently, mutations were found in patients with TRMA in...
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