Title : The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

Pub. Date : 2008 Sep

PMID : 18718264






2 Functional Relationships(s)
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1 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. Leucovorin solute carrier family 46 member 1 Homo sapiens
2 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. Leucovorin solute carrier family 46 member 1 Homo sapiens