Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection

ConclusionThis study showed that FBN1 gene frameshift and nonsense mutations are more common in patients with aortic dissection and may have meaningful guidance for the treatment of Marfan syndrome patients.

Source: Molecular Genetics & Genomic Medicine - December 11, 2019 Category: Genetics & Stem Cells Authors: Shijun Xu, Lei Li, Yuwei Fu, Xin Wang, Hairui Sun, Jianbin Wang, Lu Han, Zining Wu, Yongmin Liu, Junming Zhu, Lizhong Sun, Feng Lan, Yihua He, Hongjia Zhang Tags: ORIGINAL ARTICLE Source Type: research