Article
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
Circulation research - 18 Mar 2016
Guo Dong-chuan, Regalado Ellen S, Gong Limin, Duan Xueyan, Santos-Cortez Regie Lyn P, Arnaud Pauline, Ren Zhao, Cai Bo, Hostetler Ellen M, Moran Rocio, Liang David, Estrera Anthony, Safi Hazim J, Leal Suzanne M, Bamshad Michael J, Shendure Jay, Nickerson Deborah A, Jondeau Guillaume, Boileau Catherine, Milewicz Dianna M
Abstract excerpt
RATIONALE: Mutations in several genes have been identified that are responsible for 25% of families with familial thoracic aortic aneurysms and dissections. However, the causative gene remains unknown in 75% of families. OBJECTIVES: To identify the causative mutation in families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections. METHODS AND RESULTS: Exome sequencing was used to...
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