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Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

✍ Scribed by Gelb, Bruce D.; Diaz, George A.; Banikazemi, Maryam; Oishi, Kimihiko; Desnick, Robert J.


Book ID
109465860
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
219 KB
Volume
22
Category
Article
ISSN
1061-4036

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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