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Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

5-Methyltetrahydrofolate, the major form of folate in plasma, is a carbon donor for the remethylation of homocysteine to methionine. This form of folate is generated from 5,10-methylenetetrahydrofolate through the action of 5,10-methylenetetrahydrofolate reductase (MTHFR), a cytosolic flavoprotein....

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Autori principali: Goyette, P, Frosst, P, Rosenblatt, D S, Rozen, R
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801446/
https://ncbi.nlm.nih.gov/pubmed/7726158
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