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Article

Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.

Pediatric hematology and oncology - 1 Nov 2010

Atabay Berna, Turker Meral, Ozer Esra Arun, Mahadeo Kris, Diop-Bove Ndeye, Goldman I David

Abstract excerpt

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder characterized by systemic and central nervous system folate deficiency. Turkish siblings are reported with the clinical syndrome of HFM, homozygous for deletion of 2 bases (c.204_205 delCC) within the first exon of the p...

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Identifiers

PMID: 20795774
DOI: 10.3109/08880018.2010.481705
PMCID: PMC3885236

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20795774-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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