A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome

Gene of the issue: GP1BA gene mutations associated with bleeding

(2017) Maha Othman et al.   PLATELETS

Platelet type von Willebrand disease and registry report: communication from the SSC of the ISTH

(2016) M. Othman et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Diagnosis and treatment of inherited thrombocytopenias

(2015) A. Pecci   CLINICAL GENETICS

Molecular basis of inherited thrombocytopenias

(2015) A. Savoia   CLINICAL GENETICS

Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project

(2014) M. Elbatarny et al.   HAEMOPHILIA

Spectrum of the Mutations in Bernard-Soulier Syndrome

(2014) Anna Savoia et al.   HUMAN MUTATION

Bernard-Soulier Syndrome: An Update

(2013) Robert Andrews et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in anIranian family with platelet-type von Willebrand disease

(2012) S. Enayat et al.   THROMBOSIS AND HAEMOSTASIS

Bernard-Soulier syndrome

(2011) M. C. Berndt et al.   HAEMATOLOGICA

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb  (Bolzano mutation)

(2011) P. Noris et al.   HAEMATOLOGICA

Effects of anti-factor VIII inhibitor antibodies on factor VIIa/tissue factor-catalysed activation and inactivation of factor VIII

(2011) Koji Yada et al.   THROMBOSIS AND HAEMOSTASIS

ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders

(2010) F. RODEGHIERO et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Novel point mutation in a leucine-rich repeat of the GPIb  chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

(2008) S. Vettore et al.   HAEMATOLOGICA