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Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the synthesis of 5-methyltetrahydrofolate, a methyl donor in the conversion of homocysteine to methionine. Patients with severe MTHFR deficiency have hyperhomocysteinemia, hypomethioninemia, and a range of neurological and vascular findings with...

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Autori principali: Goyette, P., Christensen, B., Rosenblatt, D. S., Rozen, R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1996
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914869/
https://ncbi.nlm.nih.gov/pubmed/8940272
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