Mosaicism for the smooth muscle cell (SMC)-specific knock-in of the Acta2 R179C pathogenic variant: Implications for gene editing therapies.
作者信息
Kaw Anita, Pedroza Albert J, Chattopadhyay Abhijnan, Pinard Amelie, Guo Dongchuan, Kaw Kaveeta, Zhou Zhen, Shad Rohan, Fischbein Michael P, Kwartler Callie S, Milewicz Dianna M
机构信息
Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, TX 77030, USA.
Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA 94305, United States of America.
出版信息
J Mol Cell Cardiol. 2022 Oct;171:102-104. doi: 10.1016/j.yjmcc.2022.07.004. Epub 2022 Jul 22.
Abstract
摘要
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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.因 ACTA2 精氨酸 179 改变导致的平滑肌功能障碍综合征的临床病史和管理建议。
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