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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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主要な著者: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
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Elsevier
2009
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主題: | |
オンライン・アクセス: | 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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