GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Lignende værker

• Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
  af: Sivapalaratnam, Suthesh, et al.
  Udgivet: (2016)
• Mutation Update for GNE Gene Variants Associated with GNE Myopathy
  af: Celeste, Frank V., et al.
  Udgivet: (2014)
• GNE genotype explains 20% of phenotypic variability in GNE myopathy
  af: Pogoryelova, Oksana, et al.
  Udgivet: (2019)
• Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
  af: Pleines, Irina, et al.
  Udgivet: (2017)
• Fertility preservation in young cancer patients
  af: Revel, Ariel, et al.
  Udgivet: (2010)