title: Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion.
authors: Florian Langer MD, II. Medizinische Klinik und Poliklinik, Hubertus Wald Tumorzentrum, Universitäres Cancer Center Hamburg (UCCH), Universitätsklinikum Eppendorf, Martinistr. 52, 20246 Hamburg, Germany, Tel.: +49 40 7410 52453, Fax: +49 40 7410 55193, E-mail: langer@uke.de.
authors: Florian
authors: F
authors: Langer
authors: Tobias
authors: T
authors: Obser
authors: Florian
authors: F
authors: Oyen
authors: Brigitte
authors: B
authors: Spath
authors: Katharina
authors: K
authors: Holstein
authors: Andreas
authors: A
authors: Greinacher
authors: James G
authors: JG
authors: White
authors: Ulrich
authors: U
authors: Budde
authors: Carsten
authors: C
authors: Bokemeyer
authors: Reinhard
authors: R
authors: Schneppenheim
mesh_terms: D000328:Adult; D001792:Blood Platelets / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006470:Hemorrhage / Q000235:genetics; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010974:Platelet Aggregation / Q000235:genetics; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics / Q000378:metabolism*; D011247:Pregnancy; D011446:Prospective Studies; D011485:Protein Binding / Q000235:genetics; D055503:Protein Multimerization / Q000235:genetics; D059748:Proteolysis; D055571:Secretory Pathway / Q000235:genetics*; D022142:Secretory Vesicles / Q000378:metabolism; D013921:Thrombocytopenia / Q000235:genetics*; D056728:von Willebrand Disease, Type 2 / Q000175:diagnosis / Q000235:genetics*; D014841:von Willebrand Factor / Q000008:administration & dosage / Q000378:metabolism*
chemical_list: D019038:Platelet Glycoprotein GPIb-IX Complex; C094990:adhesion receptor; D014841:von Willebrand Factor