Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency

Blood. 2013 Nov 21;122(22):3696-8. doi: 10.1182/blood-2013-08-522037.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Hemolytic, Autoimmune / blood
  • Anemia, Hemolytic, Autoimmune / genetics
  • Blood Platelets / metabolism*
  • Calcium Signaling
  • Child, Preschool
  • Female
  • Homozygote
  • Humans
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics*
  • Neoplasm Proteins / deficiency*
  • Neoplasm Proteins / genetics*
  • Point Mutation
  • Stromal Interaction Molecule 1
  • Syndrome
  • Thrombocytopenia / blood
  • Thrombocytopenia / genetics

Substances

  • Membrane Proteins
  • Neoplasm Proteins
  • STIM1 protein, human
  • Stromal Interaction Molecule 1