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Human Mutation, ISSN 1059-7794, 09/2014, Volume 35, Issue 9, pp. 1033 - 1045
Journal Article
Blood Coagulation & Fibrinolysis, ISSN 0957-5235, 12/2019, Volume 30, Issue 8, pp. 423 - 425
Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder caused by a defective function of glycoprotein (GP) Ib-V-IX complex. Among the... 
velocardiofacial syndrome | DiGeorge syndrome | 2 deletion syndrome | 22q11 | THROMBOCYTOPENIA | HEMATOLOGY | Bernard-Soulier syndrome
Journal Article
Journal of Thrombosis and Haemostasis, ISSN 1538-7933, 02/2020, Volume 18, Issue 2, pp. 510 - 517
Background Disruption of protein folding or inter‐subunit interactions in the platelet glycoprotein (GP)Ib‐IX complex leads to its abnormally low expression in... 
Bernard‐Soulier syndrome | unfolded protein response | glycoprotein Ib alpha | mechanosensory | glycoprotein Ib‐IX complex | PROTEIN | glycoprotein Ib-IX complex | TRANSMEMBRANE DOMAIN | BETA | IX COMPLEX | PERIPHERAL VASCULAR DISEASE | MUTATIONS | HEMATOLOGY | BINDING | ATF6 | Bernard-Soulier syndrome | Clonal deletion | Protein folding | Glycoproteins
Journal Article