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- W1986243503 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. 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." @default.
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- W1986243503 date "2008-09-01" @default.
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- W1986243503 title "The Clinical Course and Genetic Defect in the PCFT Gene in a 27-Year-Old Woman with Hereditary Folate Malabsorption" @default.
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- W1986243503 doi "https://doi.org/10.1016/j.jpeds.2008.04.009" @default.
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