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Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome

Background Marfan syndrome (MFS) is an inherited connective tissue disorder affecting the ocular, skeletal and cardiovascular systems. Previous studies of MFS have demonstrated the association between genetic defects and clinical manifestations. Our purpose was to investigate the role of novel genet...

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Autori principali: Zhening Pu, Haoliang Sun, Junjie Du, Yue Cheng, Keshuai He, Buqing Ni, Weidong Gu, Juncheng Dai, Yongfeng Shao
Natura: Artigo
Lingua:Inglês
Pubblicazione: PeerJ Inc. 2018-11-01
Serie:PeerJ
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Accesso online:https://peerj.com/articles/5927.pdf
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