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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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Autori principali: Meyer, Esther, Kurian, Manju A., Pasha, Shanaz, Trembath, Richard C., Cole, Trevor, Maher, Eamonn R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Academic Press 2010
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Accesso online: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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