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Article

The prevalence of folate-remedial MTHFR enzyme variants in humans.

Proceedings of the National Academy of Sciences of the United States of America - 10 Jun 2008

Marini Nicholas J, Gin Jennifer, Ziegle Janet, Keho Kathryn Hunkapiller, Ginzinger David, Gilbert Dennis A, Rine Jasper

Abstract excerpt

Studies of rare, inborn metabolic diseases establish that the phenotypes of some mutations in vitamin-dependent enzymes can be suppressed by supplementation of the cognate vitamin, which restores function of the defective enzyme. To determine whether polymorphisms exist that more subtly affect en...

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Share to Amino Acid Substitution
Share to Biological Assay
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Folic Acid

Share to Immunoblotting

Share to Methylenetetrahydrofolate Reductase (NADPH2)

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Source

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Identifiers

PMID: 18523009
DOI: 10.1073/pnas.0802813105
PMCID: PMC2430358

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18523009-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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