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Meyer E, Kurian MA, Pasha S, Trembath RC, Cole T, Maher ER. A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption. Molecular Genetics and Metabolism. 2010 Mar;99(3):325–8. doi: 10.1016/j.ymgme.2009.11.004. |