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A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

2014; Elsevier BV; Volume: 124; Issue: 16 Linguagem: Inglês

10.1182/blood-2014-01-551820

1528-0020

Vladimir T. Manchev, Morgane Hilpert, Eliane Berrou, Ziane Elaïb, Achille Aouba, Siham Boukour, Sylvie Souquère, Gérard Pierron, Philippe Rameau, Robert K. Andrews, François Lanza, Régis Bobe, William Vainchenker, Jean‐Philippe Rosa, Marijke Bryckaert, Najet Debili, Rémi Favier, Hana Raslová,

Blood properties and coagulation

Key Points We identify a new type of autosomal recessive macrothrombocytopenia associated with a mutation in PRKACG, coding the PKA catalytic subunit. The homozygous PRKACG mutation leads to a deep defect in proplatelet formation that was restored by the overexpression of wild-type PRKACG.