5,10‐Methylenetetrahydrofolate reductase 677C→T and 1298A→C mutations are genetic determinants of elevated homocysteine
Author:
Publisher
Oxford University Press (OUP)
Subject
General Medicine
Link
http://academic.oup.com/qjmed/article-pdf/96/4/297/12939987/960297.pdf
Reference28 articles.
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2. Dekou V, Whincup P, Papacosta O, Ebrahim S, Lennon L, Ueland PM, Refsum H, Humphries SE, Gudnason V. The effect of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase gene on homocysteine levels in elderly men and women from the British regional heart study. Atherosclerosis2001; 154:659–66.
3. Blom HJ. Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta‐synthase and 5,10‐methylenetetrahydrofolate reductase. Eur J Pediatr2000; 159:S208–12.
4. Guenther BD, Sheppard CA, Tran P, Rozen R, Matthews RG, Ludwig ML. The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia. Nat Struct Biol1999; 6:359–65.
5. van der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural‐tube defects? Am J Hum Genet1998; 62:1044–51.
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