A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia

Br J Haematol. 2018 Nov;183(3):503-506. doi: 10.1111/bjh.14986. Epub 2017 Oct 30.

Dorsaf Ghalloussi¹, Noémie Saut², Denis Bernot², Xavier Pillois³, Philippe Rameau⁴, Gérard Sébahoun⁵, Marie-Christine Alessi^{1

6}, Hana Raslova⁷, Véronique Baccini^{1

5

6}

¹ UMR1062 INSERM, Medicine Faculty, Aix Marseille University, Marseille, France.
² Haematology laboratory, Hôpital La Timone, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
³ INSERM 1034, Haematology Laboratory, Centre Hospitalo-Universitaire, Bordeaux, France.
⁴ PFIC, UMS AMMICA (UMS 3655 CNRS/US 23 INSERM), Gustave Roussy Cancer Campus, Villejuif, France.
⁵ Haematology Laboratory, Hôpital Nord, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
⁶ Centre de Référence des Pathologies Plaquettaires, Hôpital La Timone, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
⁷ INSERM 1170, Gustave Roussy Cancer Campus, Villejuif, France.

No abstract available

Keywords: macrothrombocytopenia; megakaryocytopoiesis; platelet genetic diseases; platelet membrane; platelets.

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