Article
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.
Circulation. Genomic and precision medicine - 1 Oct 2020
Pua Chee Jian, Tham Nevin, Chin Calvin W L, Walsh Roddy, Khor Chiea Chuen, Toepfer Christopher N, Repetti Giuliana G, Garfinkel Amanda C, Ewoldt Jourdan F, Cloonan Paige, Chen Christopher S, Lim Shi Qi, Cai Jiashen, Loo Li Yang, Kong Siew Ching, Chiang Charleston W K, Whiffin Nicola, de Marvao Antonio, Lio Pei Min, Hii An An, Yang Cheng Xi, Le Thu Thao, Bylstra Yasmin, Lim Weng Khong, Teo Jing Xian, Padilha Kallyandra, Silva Gabriela V, Pan Bangfen, Govind Risha, Buchan Rachel J, Barton Paul J R, Tan Patrick, Foo Roger, Yip James W L, Wong Raymond C C, Chan Wan Xian, Pereira Alexandre C, Tang Hak Chiaw, Jamuar Saumya Shekhar, Ware James S, Seidman Jonathan G, Seidman Christine E, Cook Stuart A
Abstract excerpt
BACKGROUND: To assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry. METHODS: We sequenced HCM disease genes in Singaporean patients (n=224) and Singaporean controls (n=3634), compared findings with additional populations and White HCM cohorts (n=6179), and performed in vitro functional studies. RESULTS: Singaporean HCM patients had significantly fewer...
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