title: Acquired von Willebrand syndrome type 2A in a JAK2-positive essential thrombocythaemia-affected member of a large von Willebrand disease family with a novel autosomal dominant A1716P mutation.
authors.forename: S
authors.initials: S
authors.lastname: Giannini
authors.forename: M
authors.initials: M
authors.lastname: Solimando
authors.forename: T
authors.initials: T
authors.lastname: Fierro
authors.forename: L
authors.initials: L
authors.lastname: Baronciani
authors.forename: A B
authors.initials: AB
authors.lastname: Federici
authors.forename: P
authors.initials: P
authors.lastname: Gresele
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000378:metabolism; D025063:Chromosome Disorders; D004252:DNA Mutational Analysis; D005190:Family; D005799:Genes, Dominant; D006470:Hemorrhage; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D010974:Platelet Aggregation / Q000235:genetics; D010975:Platelet Aggregation Inhibitors / Q000008:administration & dosage; D012074:Remission Induction; D013920:Thrombocythemia, Essential / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D056725:von Willebrand Disease, Type 1 / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D056728:von Willebrand Disease, Type 2 / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D014841:von Willebrand Factor / Q000235:genetics / Q000276:immunology / Q000378:metabolism*
chemical_list: D001323:Autoantibodies; D010975:Platelet Aggregation Inhibitors; D014841:von Willebrand Factor; C507924:JAK2 protein, human; D053614:Janus Kinase 2