Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II

Lignende værker

• Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene
  af: Russo, Roberta, et al.
  Udgivet: (2010)
• Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach
  af: Iolascon, Achille, et al.
  Udgivet: (2012)
• GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II
  af: Russo, Roberta, et al.
  Udgivet: (2017)
• Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship
  af: Iolascon, Achille, et al.
  Udgivet: (2010)
• Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population
  af: Russo, Roberta, et al.
  Udgivet: (2011)