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Article

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.

Blood - 15 Aug 2007

Zhao Rongbao, Min Sang Hee, Qiu Andong, Sakaris Antoinette, Goldberg Gary L, Sandoval Claudio, Malatack J Jeffrey, Rosenblatt David S, Goldman I David

Abstract excerpt

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestinal folate absorption and impaired folate transport into the central nervous system. Recent studies in 1 family revealed that the molecular basis for this disorder is a loss-of-function mutation...

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Identifiers

PMID: 17446347
DOI: 10.1182/blood-2007-02-077099
PMCID: PMC1939898

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17446347-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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