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3. Bernard‐Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in <italic>GP1BA</italic>.

Author

Böckelmann, D., Lerner, E., Sandrock‐Lang, K., Zieger, B., Naz, A., Siddiqi, M. Y. J., and Shamsi, T. S.

Subjects
VON Willebrand factor, BLOOD platelets, BLOOD agglutination, RISTOCETIN, HEMORRHAGE, NOSEBLEED, HEMATOMA
Abstract

The article discusses a study conducted on a cohort of Pakistani patients with severe bleeding abnormalities including hematoma, epistaxis and prolonged wound bleeding, who were diagnosed with Bernard‐Soulier syndrome. According to the author, this disease is caused by defects to the platelet receptor for von Willebrand factor (VWF) and is accompanied by low platelet counts and impaired platelet agglutination after stimulation with ristocetin.

Published
2018
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