Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

The vascular smooth muscle cell (SMC)-specific isoform of α-actin (ACTA2) is a major component of the contractile apparatus in SMCs located throughout the arterial system. Heterozygous ACTA2 mutations cause familial thoracic aortic aneurysms and dissections (TAAD), but only half of mutation carriers...

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Auteurs principaux: Guo, Dong-Chuan, Papke, Christina L., Tran-Fadulu, Van, Regalado, Ellen S., Avidan, Nili, Johnson, Ralph Jay, Kim, Dong H., Pannu, Hariyadarshi, Willing, Marcia C., Sparks, Elizabeth, Pyeritz, Reed E., Singh, Michael N., Dalman, Ronald L., Grotta, James C., Marian, Ali J., Boerwinkle, Eric A., Frazier, Lorraine Q., LeMaire, Scott A., Coselli, Joseph S., Estrera, Anthony L., Safi, Hazim J., Veeraraghavan, Sudha, Muzny, Donna M., Wheeler, David A., Willerson, James T., Yu, Robert K., Shete, Sanjay S., Scherer, Steven E., Raman, C.S., Buja, L. Maximilian, Milewicz, Dianna M.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2009
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2680995/
https://ncbi.nlm.nih.gov/pubmed/19409525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.04.007
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