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Inherited macrothrombocytopenias on the rise.

Carolina Landolt-MarticorenaWalter H A Kahr
Published in: Blood (2014)
In this issue of Blood, Manchev et al describe a consanguineous family with severe macrothrombocytopenia and bleeding symptoms where exome sequencing revealed a homozygous missense mutation in the PRKACG gene (p.74Ile>Met) encoding the γ-catalytic subunit of cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA).
Keyphrases
  • protein kinase
  • copy number
  • single cell
  • intellectual disability
  • genome wide
  • atrial fibrillation
  • tyrosine kinase
  • early onset
  • genome wide identification
  • autism spectrum disorder
  • physical activity