A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

TAB2 is an activator of MAP 3  K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicatin...

Source: BMC Cardiovascular Disorders - January 20, 2020 Category: Cardiology Authors: Jia Chen, Huizhen Yuan, Kang Xie, Xinrong Wang, Linglong Tan, Yongyi Zou, Yan Yang, Lu Pan, Junfang Xiao, Ge Chen and Yanqiu Liu Tags: Case report Source Type: research