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Article

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.

Molecular genetics and metabolism - 1 Mar 2010

Meyer Esther, Kurian Manju A, Pasha Shanaz, Trembath Richard C, Cole Trevor, Maher Eamonn R

Abstract excerpt

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder which is characterized by impaired intestinal folate malabsorption and impaired folate transport into the central nervous system. Mutations in the intestinal folate transporter PCFT have been reported previously in only...

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PMID: 20005757
DOI: 10.1016/j.ymgme.2009.11.004
PMCID: PMC2852677

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20005757-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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