A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

Lignende værker

• The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption
  af: Zhao, Rongbao, et al.
  Udgivet: (2007)
• The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption
  af: Zhao, Rongbao, et al.
  Udgivet: (2016)
• Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption
  af: Shin, Daniel Sanghoon, et al.
  Udgivet: (2011)
• MUTATION OF THE PROTON-COUPLED FOLATE TRANSPORTER GENE (PCFT-SLC46A1) IN TURKISH SIBLINGS WITH HEREDITARY FOLATE MALABSORPTION
  af: Atabay, Berna, et al.
  Udgivet: (2010)
• CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency
  af: Torres, A., et al.
  Udgivet: (2015)