Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers

ObjectiveThe myosin-binding protein C (MYBPC3) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland. This cross-sectional observational study explored the penetrance and phenotypic burden among carriers of this single, prevalent founder mutat...

詳細記述

書誌詳細

主要な著者:	Javier Diez, Begoña López, Barry J Maron, Berglind Adalsteinsdottir, Michael Burke, Ragnar Danielsen, Petr Jarolim, Jonathan Seidman, Christine E. Seidman, Carolyn Y Ho, Gunnar Th Gunnarsson
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMJ Publishing Group 2020-06-01
シリーズ:	Open Heart
オンライン･アクセス:	https://openheart.bmj.com/content/7/1/e001220.full
タグ:	タグ追加 タグなし, このレコードへの初めてのタグを付けませんか!