A novel FBN1 mutation causes autosomal dominant Marfan syndrome

Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin-1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Med Rep
Prif Awduron: Xiao, Ying, Liu, Xiaoqi, Guo, Xiaoxin, Liu, Liping, Jiang, Linxin, Wang, Qi, Gong, Bo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: D.A. Spandidos 2017
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5865861/
https://ncbi.nlm.nih.gov/pubmed/28944857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2017.7544
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