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Article

MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.

Journal of genetic counseling - 1 Oct 2016

Levin Brooke Levenseller, Varga Elizabeth

Abstract excerpt

The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byproducts of which are involved in the remethylation of homocysteine to methionine. Methionine is a precursor for a major DNA methyl donor and is important for DNA methylation and gene regulation. Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading...

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Source

Identifiers

PMID: 27130656
DOI: 10.1007/s10897-016-9956-7

Genes

MTHFR

Variants

Provenance

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