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Article

A folate receptor alpha double-mutated haplotype 1816delC-1841A is distributed throughout Eurasia and associated with lower erythrocyte folate levels.

Molecular biology reports - 1 Apr 2012

Nilsson Torbjörn K, Laanpere Margit, Altmäe Signe, Serra-Majem Lluís, Salumets Andres

Abstract excerpt

Folate is crucial for various cellular functions. Several transport mechanisms allow folate to enter the intracellular compartment with folate receptor-α being the major high-affinity receptor. Rare genetic variations in exons of the FR-α gene, FOLR1, were recently shown to cause severe folate deficiency accompanied by neurological and other disturbances. So far, similar effects by genetic variation in noncoding...

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Identifiers

PMID: 21938430
DOI: 10.1007/s11033-011-1236-x

Genes

FOLR1
MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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