P2Y12 receptor gene mutations associated with bleeding

Inherited CalDAG-GEFI deficiency

(2016) M. Cattaneo   BLOOD

Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis

(2014) A. Lecchi et al.   BLOOD

A novel mutation in the P2Y12receptor and a function-reducing polymorphism in protease-activated receptor 1 in a patient with chronic bleeding

(2014) Y. M. Patel et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets

(2011) S. Nisar et al.   BLOOD

Identification and analysis of functionally important amino acids in human purinergic 12 receptor using a Saccharomyces cerevisiae expression system

(2011) Vita Ignatovica et al.   FEBS Journal

The platelet P2Y12 receptor for adenosine diphosphate: congenital and drug-induced defects

(2010) M. Cattaneo   BLOOD

New P2Y 12 Inhibitors

(2010) Marco Cattaneo   CIRCULATION

Identification and characterization of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

(2009) M. E. Daly et al.   BLOOD

Haploinsufficiency of the platelet P2Y12 gene in a family with congenital bleeding diathesis

(2009) G. Fontana et al.   HAEMATOLOGICA

Involvement of basic amino acid residues in transmembrane regions 6 and 7 in agonist and antagonist recognition of the human platelet P2Y12-receptor

(2008) Kristina Hoffmann et al.   BIOCHEMICAL PHARMACOLOGY