| 概要 |
Methylcobalamin deficiency type G (cblG) is an autosomal recessive disease characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. Mutations in the MTR gene, which encodes methionine synthase result in this disease.
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| 著者 |
Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS |
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| タイトル |
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. |
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