Article
HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy.
Clinical chemistry and laboratory medicine - 1 Jul 2016
Zhou Yi-Meng, Dai Xiao-Yong, Qiu Xing-Biao, Yuan Fang, Li Ruo-Gu, Xu Ying-Jia, Qu Xin-Kai, Huang Ri-Tai, Xue Song, Yang Yi-Qing
Abstract excerpt
BACKGROUND: The basic helix-loop-helix transcription factor HAND1 is essential for cardiac development and structural remodeling, and mutations in HAND1 have been causally linked to various congenital heart diseases. However, whether genetically compromised HAND1 predisposes to dilated cardiomyopathy (DCM) in humans remains unknown. METHODS: The whole coding region and splicing junctions of the HAND1 gene were...
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