Bernard-Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA

Spectrum of the Mutations in Bernard-Soulier Syndrome

(2014) Anna Savoia et al.   HUMAN MUTATION

Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review

(2014) Bipin P. Kulkarni et al.   PLoS One

Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency

(2013) M. Borhany et al.   HAEMOPHILIA

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

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

Molecular pathology of Bernard–Soulier syndrome in Indian patients

(2013) Shahnaz Ali et al.   PLATELETS

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