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Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes

✍ Scribed by Liu, Gang; Yang, Fan; Han, Bing; Liu, Junxiu; Nie, Guangjun

Book ID
122265772
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
155 KB
Volume
52
Category
Article
ISSN
1079-9796

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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