Ontology highlight
ABSTRACT:
SUBMITTER: Guo DC
PROVIDER: S-EPMC4839295 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Guo Dong-chuan DC Regalado Ellen S ES Gong Limin L Duan Xueyan X Santos-Cortez Regie Lyn P RL Arnaud Pauline P Ren Zhao Z Cai Bo B Hostetler Ellen M EM Moran Rocio R Liang David D Estrera Anthony A Safi Hazim J HJ Leal Suzanne M SM Bamshad Michael J MJ Shendure Jay J Nickerson Deborah A DA Jondeau Guillaume G Boileau Catherine C Milewicz Dianna M DM
Circulation research 20160112 6
<h4>Rationale</h4>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.<h4>Objectives</h4>To identify the causative mutation in families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections.<h4>Methods and results</h4>Exome sequencing was used to identify the mutation responsible for a large family with thoracic ao ...[more]