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

Abstract Background Marfan syndrome (MFS) is an inherited connective tissue disease that mainly involves Fibrillin‐1 (FBN1) mutations and aortic manifestations. In this study, we investigated the correlations between the FBN1 genotype–phenotype and aortic events (aortic dissection and aortic aneurys...

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Principais autores:	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
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2020-01-01
Serija:	Molecular Genetics & Genomic Medicine
Teme:	aortic aneurysm aortic dissection FBN1 Marfan syndrome
Online dostop:	https://doi.org/10.1002/mgg3.1041
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