HAE
收藏国家生物信息中心2025-10-11 更新2025-03-15 收录
下载链接：
http://hae.biomembrane.hu
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资源简介：
Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema and is caused by the deficiency of the activated C1 esterase inhibitor protein (C1-INH or C1INH; approved gene symbol SERPING1). The HAEdb, a C1-INH gene mutation database was created to contribute to the following expectations: 1) help the comprehensive collection of information on genetic alterations of the C1-INH gene; 2) create a database in which data can be searched and compared according to several flexible criteria; and 3) provide additional help in new mutation identification.
提供机构：
Institute of Hematology and Immunology
创建时间：
2018-02-10
