期刊
JOURNAL OF PEDIATRICS
卷 153, 期 3, 页码 435-437出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2008.04.009
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资金
- NCI NIH HHS [P30 CA013330] Funding Source: Medline
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.
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