title: Two novel mutations identified in a type 3 von Willebrand disease patient.
abstract: von Willebrand disease (VWD) is the most common inherited bleeding disorder in humans. Caused by mutations in the von Willebrand factor (VWF) gene, these defects result in qualitatively abnormal variants of VWF (classi&filig;ed as type 2 VWD) or a decrease in VWF levels (types 1 and 3 VWD). Type 3 VWD is the most severe type and usually presented with undetectable VWF level. In this report, we describe a type 3 VWD patient. Molecular analysis of the whole VWF gene reveals two novel mutations, c.2480G>A (p.C827Y) in exon 19 and c.3897delT in exon 28.
authors.affiliation: aJiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University bCollaborative Innovation Center of Hematology, Soochow University, Suzhou, China.
authors.forename: Wanyan
authors.initials: W
authors.lastname: Ouyang
authors.forename: Ziqiang
authors.initials: Z
authors.lastname: Yu
authors.forename: Jie
authors.initials: J
authors.lastname: Yin
authors.forename: Jian
authors.initials: J
authors.lastname: Su
authors.forename: Chunchen
authors.initials: C
authors.lastname: Yang
authors.forename: Changgeng
authors.initials: C
authors.lastname: Ruan
mesh_terms: D001483:Base Sequence; D002648:Child; D005091:Exons; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D056729:von Willebrand Disease, Type 3 / Q000097:blood / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor