Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

Dong Chuan Guo, Ellen Regalado, Darren E. Casteel, Regie L. Santos-Cortez, Limin Gong, Jeong Joo Kim, Sarah Dyack, S. Gabrielle Horne, Guijuan Chang, Guillaume Jondeau, Catherine Boileau, Joseph S. Coselli, Zhenyu Li, Suzanne M. Leal, Jay Shendure, Mark J. Rieder, Michael J. Bamshad, Deborah A. Nickerson, Choel Kim, Dianna M. Milewicz

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204 Scopus citations

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Immunology and Microbiology

Biochemistry, Genetics and Molecular Biology