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

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.

Affiliation

Bragadottir G; Laboratory Hematology and Coagulation Disorder Unit, Central Laboratory, Landspitali University Hospital, Reykjavik, Iceland.

Am J Hematol ; 90(2): 149-55, 2015 Feb.

Article in En | MEDLINE | ID: mdl-25370924

Subject(s)

Bernard-Soulier Syndrome/genetics; Heterozygote; Mutation; Platelet Glycoprotein GPIb-IX Complex/genetics; von Willebrand Factor/genetics; Adolescent; Adult; Aged; Bernard-Soulier Syndrome/diagnosis; Bernard-Soulier Syndrome/physiopathology; Blood Coagulation; Blood Platelets/drug effects; Blood Platelets/metabolism; Blood Platelets/pathology; Child; Coagulants/pharmacology; Female; Gene Expression; Homozygote; Humans; Male; Middle Aged; Phenotype; Platelet Count; Ristocetin/pharmacology; Severity of Illness Index; Surveys and Questionnaires

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bernard-Soulier Syndrome / Von Willebrand Factor / Platelet Glycoprotein GPIb-IX Complex / Heterozygote / Mutation Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: Am J Hematol Year: 2015 Type: Article Affiliation country: Iceland

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