Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature

Samankaltaisia teoksia

• F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: Proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents
  Tekijä: Fox, Norma E., et al.
  Julkaistu: (2010)
• Congenital Amegakaryocytic Thombocytopenia and Thrombocytopenia with Absent Radii
  Tekijä: Geddis, Amy E.
  Julkaistu: (2009)
• Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
  Tekijä: Ihara, Kenji, et al.
  Julkaistu: (1999)
• Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling
  Tekijä: Hirata, Shinji, et al.
  Julkaistu: (2013)
• Gene editing rescue of a novel MPL mutant associated with congenital amegakaryocytic thrombocytopenia
  Tekijä: Cleyrat, Cédric, et al.
  Julkaistu: (2017)