The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 18718264.
- Also identified by DOI 10.1016/j.jpeds.2008.04.009 and PMC identifier 3835188.
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Abstract
We report 2 sequential homozygous mutations in the recently cloned proton-coupled folate transporter (PCFT) gene, resulting in the absence of this protein, in a 27-year-old woman with hereditary folate malabsorption, normal in all respects having completed higher education, who has been treated with parenteral 5-formyltetrahydrofolate since infancy.
Medical subject headings
- Folic Acid
- Malabsorption Syndromes
- Membrane Transport Proteins
- Mutation
- RNA, Messenger