Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic aortic aneurysms and dissections. Exome sequencing of distant relatives affected by thoracic aortic disease and subsequent Sanger sequencing of additional probands with familial thor...

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Main Authors: Guo, Dong-chuan, Regalado, Ellen, Casteel, Darren E., Santos-Cortez, Regie L., Gong, Limin, Kim, Jeong Joo, Dyack, Sarah, Horne, S. Gabrielle, Chang, Guijuan, Jondeau, Guillaume, Boileau, Catherine, Coselli, Joseph S., Li, Zhenyu, Leal, Suzanne M., Shendure, Jay, Rieder, Mark J., Bamshad, Michael J., Nickerson, Deborah A., Kim, Choel, Milewicz, Dianna M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3738837/
https://ncbi.nlm.nih.gov/pubmed/23910461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.06.019
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