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Article

Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study.

Journal of medicine and life - 1 Jan 2000

Neagos Daniela, Cretu Ruxandra, Tutulan-Cunita Andreea, Stoian Veronica, Bohiltea Laurentiu Camil

Abstract excerpt

Recent reports linking Down syndrome (DS) to maternal polymorphism at the methylenetetrahydrofolate dehydrogenase (MTHFD) locus have generated a great interest among investigators in the field. In the current study, we examine one genetic polymorphism involved in homocysteine/folate pathway as a risk factor for DS in a Romanian urban-area women cohort. Our results show that the frequencies of MTHFD1 alleles, as...

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Source

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Identifiers

PMID: 21254748
PMCID: PMC3019079

Genes

MTHFD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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