Identification of a novel single‐nucleotide mutation in SMIM1 gene that results in low Vel antigen expression

Eitemau Tebyg

• SMIM1 underlies the Vel blood group and influences red blood cell traits
  gan: Cvejic, Ana, et al.
  Cyhoeddwyd: (2013)
• Disruption of SMIM1 causes the Vel− blood type
  gan: Ballif, Bryan A, et al.
  Cyhoeddwyd: (2013)
• SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression
  gan: Christophersen, Mikael K., et al.
  Cyhoeddwyd: (2017)
• Will Genotyping Replace Serology in Future Routine Blood Grouping? – Opinion 5
  gan: van der Schoot, C. Ellen, et al.
  Cyhoeddwyd: (2009)
• SMIM1 is a type II transmembrane phosphoprotein and displays the Vel blood group antigen at its carboxyl-terminus
  gan: Arnaud, Lionel, et al.
  Cyhoeddwyd: (2015)