New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia

Spectrum of 5’UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected

(2017) Silvia Ferrari et al.   PLATELETS

Rare variants inGP1BBare responsible for autosomal dominant macrothrombocytopenia

(2016) Suthesh Sivapalaratnam et al.   BLOOD

Spectrum of the Mutations in Bernard-Soulier Syndrome

(2014) Anna Savoia et al.   HUMAN MUTATION

The organizing principle of the platelet glycoprotein Ib-IX-V complex

(2013) R. Li et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

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

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