A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption

Antzeko izenburuak

• MUTATION OF THE PROTON-COUPLED FOLATE TRANSPORTER GENE (PCFT-SLC46A1) IN TURKISH SIBLINGS WITH HEREDITARY FOLATE MALABSORPTION
  nork: Atabay, Berna, et al.
  Argitaratua: (2010)
• Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption
  nork: Shin, Daniel Sanghoon, et al.
  Argitaratua: (2011)
• Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption
  nork: Mahadeo, Kris, et al.
  Argitaratua: (2010)
• The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption
  nork: Zhao, Rongbao, et al.
  Argitaratua: (2016)
• Prevalence of a Loss-of-Function Mutation in the Proton-Coupled Folate Transporter Gene (PCFT-SLC46A1) Causing Hereditary Folate Malabsorption in Puerto Rico
  nork: Mahadeo, Kris M., et al.
  Argitaratua: (2011)