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Novel mutation in theSLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome

✍ Scribed by Lagarde, William H. ;Underwood, Louis E. ;Moats-Staats, Billie M. ;Calikoglu, Ali S.


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
138 KB
Volume
125A
Category
Article
ISSN
0148-7299

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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