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

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 aneurysm) in pa...

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Detalles Bibliográficos
Autores principales: Xu, Shijun, Li, Lei, Fu, Yuwei, Wang, Xin, Sun, Hairui, Wang, Jianbin, Han, Lu, Wu, Zining, Liu, Yongmin, Zhu, Junming, Sun, Lizhong, Lan, Feng, He, Yihua, Zhang, Hongjia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978253/
https://www.ncbi.nlm.nih.gov/pubmed/31830381
http://dx.doi.org/10.1002/mgg3.1041

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