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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 gene...

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Detalles Bibliográficos
Autores principales:	Pu, Zhening, Sun, Haoliang, Du, Junjie, Cheng, Yue, He, Keshuai, Ni, Buqing, Gu, Weidong, Dai, Juncheng, Shao, Yongfeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	PeerJ Inc. 2018
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238762/ https://www.ncbi.nlm.nih.gov/pubmed/30479897 http://dx.doi.org/10.7717/peerj.5927

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