数据库名称：HAE
数据库简述：Hereditary angioneurotic edema
所属国家/地区：Hungary
数据库主要信息：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.
建立年份：2005
联系信息：Contact information
University/Institution:
Institute of Hematology and Immunology
Address:
Laboratory of Molecular Genetics, National Medical Center, Institute of Hematology and Immunology, Budapest, Hungary.
City:
Budapest
Province/State:
Country/Region:
Hungary
Contact name (PI/Team):
Attila Tordai
Contact email (PI/Helpdesk):
tordai@ohvi.hu
