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

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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Bibliographic Details
Main 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
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
aortic aneurysm
aortic dissection
FBN1
Marfan syndrome
Online Access:https://doi.org/10.1002/mgg3.1041

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