The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

Documenti analoghi

• The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption
  di: Zhao, Rongbao, et al.
  Pubblicazione: (2016)
• Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption
  di: Shin, Daniel Sanghoon, et al.
  Pubblicazione: (2010)
• Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption
  di: Shin, Daniel Sanghoon, et al.
  Pubblicazione: (2011)
• The clinical course and genetic defect in the PCFT gene in a 27-year old woman with hereditary folate malabsorption
  di: Min, Sang Hee, et al.
  Pubblicazione: (2008)
• Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption
  di: Shin, Daniel Sanghoon, et al.
  Pubblicazione: (2012)