Publication: Analysis of ACTA2 in European Moyamoya disease patients
Analysis of ACTA2 in European Moyamoya disease patients
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Roder, C., Peters, V., Kasuya, H., Nishizawa, T., Wakita, S., Berg, D., Schulte, C., Khan, N., Tatagiba, M., & Krischek, B. (2011). Analysis of ACTA2 in European Moyamoya disease patients. European Journal of Paediatric Neurology, 15(2), 117–122. https://doi.org/10.1016/j.ejpn.2010.09.002
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The discovery of common genetic patterns in different system vascular diseases may provide important insights into the pathogenesis of these severe medical conditions. Recently, the coincidence of mutations in ACTA2 (vascular smooth muscle cell specific isoform of α-actin) in families with thoracic aortic aneurysms and dissections (TAAD) and Moyamoya disease (MMD) was reported in patients of Northern European descent and a positive family history for TAAD and MMD. In this study, we analyzed the nine exons of the ACTA2 gene in central
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Roder, C., Peters, V., Kasuya, H., Nishizawa, T., Wakita, S., Berg, D., Schulte, C., Khan, N., Tatagiba, M., & Krischek, B. (2011). Analysis of ACTA2 in European Moyamoya disease patients. European Journal of Paediatric Neurology, 15(2), 117–122. https://doi.org/10.1016/j.ejpn.2010.09.002