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Comment
. 2014 Oct 16;124(16):2473-5.
doi: 10.1182/blood-2014-08-592329.

Inherited macrothrombocytopenias on the rise

Carolina Landolt-Marticorena  1 , Walter H A Kahr  1
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Comment

Inherited macrothrombocytopenias on the rise

Carolina Landolt-Marticorena et al. Blood. .
Free article

Abstract

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).

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