The spectrum of mutations, including fou
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Tal Raz; Valentina Labay; Dana Baron; Raymonde Szargel; Yefim Anbinder; Tim Barr
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Article
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2000
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John Wiley and Sons
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English
β 244 KB
π 1 views
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 r