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A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder which is characterized by impaired intestinal folate malabsorption and impaired folate transport into the central nervous system. Mutations in the intestinal folate transporter PCFT have been reported previously in only 10...
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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Academic Press
2010
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2852677/ https://ncbi.nlm.nih.gov/pubmed/20005757 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2009.11.004 |
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