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Article

Reduced folate carrier polymorphism (80A-->G) and neural tube defects.

European journal of human genetics : EJHG - 1 Mar 2003

De Marco Patrizia, Calevo Maria Grazia, Moroni Anna, Merello Elisa, Raso Alessandro, Finnell Richard H, Zhu Huiping, Andreussi Luciano, Cama Armando, Capra Valeria

Abstract excerpt

Transport of folates in mammalian cells occurs by a carrier-mediated mechanism. The human folate carrier (RFC-1) gene has been isolated and characterized. Within this gene, a common polymorphism, 80A-->G, changing a histidine to an arginine in exon 2 (H27R), was recently identified. Defects in folate metabolism, such as defective carrier molecules, could be implicated in the etiology of neural tube defects...

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Identifiers

PMID: 12673279
DOI: 10.1038/sj.ejhg.5200946

Genes

MTHFR

Variants

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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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