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Article

Functional inference of methylenetetrahydrofolate reductase gene polymorphisms on enzyme stability as a potential risk factor for Down syndrome in Croatia.

Disease markers - 1 Jan 2010

Vraneković Jadranka, Babić Bozović Ivana, Starcević Cizmarević Nada, Buretić-Tomljanović Alena, Ristić Smiljana, Petrović Oleg, Kapović Miljenko, Brajenović-Milić Bojana

Abstract excerpt

Understanding the biochemical structure and function of the methylenetetrahydrofolate reductase gene (MTHFR) provides new evidence in elucidating the risk of having a child with Down syndrome (DS) in association with two common MTHFR polymorphisms, C677T and A1298C. The aim of this study was to evaluate the risk for DS according to the presence of MTHFR C677T and A1298C polymorphisms as well as the stability of...

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Identifiers

PMID: 20592453
DOI: 10.3233/DMA-2010-0704
PMCID: PMC3833613

Genes

MTHFR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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