Corpus ID: 36692508

Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.

@article{Yoo2010ClinicalPA,
  title={Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.},
  author={Eun-Hyung Yoo and S. Choi and S. Jang and Yeon-Lim Suh and I. Lee and J. Song and Y. Choe and J. Kim and Chang-Seok Ki and D. Kim},
  journal={Annals of clinical and laboratory science},
  year={2010},
  volume={40 3},
  pages={
          278-84
        }
}
  • Eun-Hyung Yoo, S. Choi, +7 authors D. Kim
  • Published 2010
  • Medicine
  • Annals of clinical and laboratory science
  • Non-syndromic familial thoracic aortic aneurysms and dissections (TAADs), inherited in an autosomal dominant manner in up to 19% of patients, are genetically heterogeneous. The ACTA2 gene, which encodes the vascular smooth muscle cell (SMC)-specific isoform of alpha-actin, is known to cause TAADs and occlusive vascular diseases, including coronary artery disease and premature ischemic stroke. We have investigated a Korean family with DeBakey type I aortic dissection related to pregnancy and a… CONTINUE READING
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