VWD的音标

Objective To study the molecular pathological mechanism of the type 2A von Willebrand disease ( vWD) and the relationship of the phenotypes with genotypes.

目的研究中国人2A型血管性血友病（von Willebrand disease，vWD）的分子病理机理，了解vWD的临床表现型和基因型的相关性。

Objective: To investigate clinical features and analyse defect gene transmission in a severe vWD pedigree.

目的：研究重症血管性血友病（vWD）患者家系成员临床表型特征，并分析血管性血友病因子（vWF）基因缺陷的传递规律。

Conclusions Combination of the tests is qualified for the diagnosis of vWD.

C2327S突变影响多聚体形成。结论：本研究建立的方法和推荐的组合实验适合于绝大多数vWD患者的诊断和分型需要。