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Article

Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2006

Scala Iris, Granese Barbara, Sellitto Maria, Salomè Serena, Sammartino Annalidia, Pepe Antonio, Mastroiacovo Pierpaolo, Sebastio Gianfranco, Andria Generoso

Abstract excerpt

PURPOSE: We present a case-control study of seven polymorphisms of six genes involved in homocysteine/folate pathway as risk factors for Down syndrome. Gene-gene/allele-allele interactions, haplotype analysis and the association with age at conception were also evaluated. METHODS: We investigated 94 Down syndrome-mothers and 264 control-women from Campania, Italy. RESULTS: Increased risk of Down syndrome was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16845273
DOI: 10.1097/01.gim.0000228206.21793.82

Genes

MTHFR
RFC1

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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