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Article

Association of C677T and A1298C polymorphisms of the MTHFR gene with maternal risk for Down syndrome: A meta-analysis of case-control studies.

Mutation research. Reviews in mutation research - 1 Jan 2000

Ginani Carla Talita Azevedo, da Luz Jefferson Romáryo Duarte, de Medeiros Kleyton Santos, Sarmento Ayane Cristine Alves, Coppedè Fabio, das Graças Almeida Maria

Abstract excerpt

BACKGROUND: Several studies around the world support the hypothesis that genetic polymorphisms involved in folate metabolism could be related to the maternal risk for Down syndrome (DS). Most of them investigated the role of MTHFR C677T and/or A1298C polymorphisms as maternal risk factors for DS, but their results are often conflicting and still inconclusive. METHODS: We conducted a systematic review and...

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Identifiers

PMID: 37689109
DOI: 10.1016/j.mrrev.2023.108470

Provenance

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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