Is MYBPC3 linked to bicuspid aortic valve?
作者信息
Niaz Talha, Hagler Donald J
机构信息
Division of Pediatric Cardiology, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota, USA.
Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
出版信息
Transl Pediatr. 2021 Feb;10(2):223-224. doi: 10.21037/tp-20-477.
Abstract
摘要
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Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.左心发育不全综合征与心肌病的遗传关联。
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An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve.一种与二叶式主动脉瓣相关的有趣的肌球蛋白结合蛋白C3（Mybpc3）杂合突变。
Transl Pediatr. 2020 Oct;9(5):610-618. doi: 10.21037/tp-20-81.
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Genetics in bicuspid aortic valve disease: Where are we?二叶式主动脉瓣疾病的遗传学研究：我们进展到哪了？
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Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.孤立性左心室心肌致密化不全心肌病中的肌节基因突变不能预测临床表型。
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