Clinical phenotype in heterozygote and biallelic Bernard‐Soulier syndrome—A case control study - Bragadottir, Gudrun; Birgisdottir, Elisabet R.; Gudmundsdottir, Brynja R.; Hilmarsdottir, Bylgja; Vidarsson, Brynjar; Magnusson, Magnus K.; Larsen, Ole Halfdan; Sorensen, Benny; Ingerslev, Jorgen; Onundarson, Pall T. (American journal of hematology, 2015)
Keywords: Adolescent; Adult; Aged; Bernard-Soulier Syndrome - diagnosis; Bernard-Soulier Syndrome - genetics; Bernard-Soulier Syndrome - physiopathology; Blood Coagulation; Blood Platelets - drug effects; Blood Platelets - metabolism; Blood Platelets - pathology; Child; Coagulants - pharmacology; Female; Gene Expression; Hematology; Heterozygote; Homozygote; Humans; Male; Middle Aged; Mutation; Phenotype; Platelet Count; Platelet Glycoprotein GPIb-IX Complex - genetics; Ristocetin - pharmacology; Severity of Illness Index; Surveys and Questionnaires; von Willebrand Factor - genetics