首页>
外国专利>
Methods and kits to detect hereditary angioedema type III using mutation in coagulation factor XII
Methods and kits to detect hereditary angioedema type III using mutation in coagulation factor XII
展开▼
机译：利用凝血因子XII突变检测III型遗传性血管性水肿的方法和试剂盒
展开▼
页面导航
摘要
著录项
相似文献
摘要
Disclosed is a method of diagnosing hereditary angioedema type III (HAE III) or a predisposition thereto comprising determining the presence or absence of a disease associated mutation. The mutation in a nucleic acid comprises a 6927 C to A or a 6927 C to G mutation of the wild-type sequence of the coagulation factor XII gene. The mutation in a coagulation factor XII polypeptide comprises a transversion of amino acid residue 309 or 310. The presence of the mutation is indicative of hereditary angioedema type III or a predisposition thereto. Also disclosed is a non-human transgenic animal comprising the mutation, oligonucleotides containing the mutation, polypeptides encoding the mutation and antibodies to the polypeptide.
展开▼
