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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Bibliographic Details
Main Authors: Meyer, Esther, Kurian, Manju A., Pasha, Shanaz, Trembath, Richard C., Cole, Trevor, Maher, Eamonn R.
Format: Artigo
Language:Inglês
Published: Academic Press 2010
Subjects:
Brief Communication
Online Access: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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