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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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Библиографические подробности
Главные авторы: Meyer, Esther, Kurian, Manju A., Pasha, Shanaz, Trembath, Richard C., Cole, Trevor, Maher, Eamonn R.
Формат: Artigo
Язык:Inglês
Опубликовано: Academic Press 2010
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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