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A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells

A common mutation (C677T) in the gene encoding for methylenetetrahydrofolate reductase (MTHFR) (5-methyltetrahydrofolate:(acceptor) oxidoreductase, EC 1.7.99.5), a key regulatory enzyme in one-carbon metabolism, results in a thermolabile variant of the MTHFR enzyme with reduced activity in vitro. In...

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Autors principals: Bagley, Pamela J., Selhub, Jacob
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences 1998
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC23763/
https://ncbi.nlm.nih.gov/pubmed/9789068
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