Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 that Are Common in Chinese Patients
In: Circulation Genomic and Precision Medicine, Jg. 13 (2020-10-01), Heft 5
Online
academicJournal
- 424 - 434
BackgroundTo assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry.MethodsWe 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.ResultsSingaporean HCM patients had significantly fewer confidently interpreted HCM disease variants (pathogenic/likely pathogenic: 18%, P
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Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 that Are Common in Chinese Patients
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| Autor/in / Beteiligte Person: | Pua, Chee Jian ; Tham, Nevin ; Chin, Calvin WL ; 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 WK ; 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 JR ; Tan, Patrick ; Foo, Roger ; Yip, James WL ; Wong, Raymond CC ; Chan, Wan Xian ; Pereira, Alexandre C ; Tang, Hak Chiaw ; Jamuar, Saumya Shekhar ; Ware, James S ; Seidman, Jonathan G ; Seidman, Christine E ; Cook, Stuart A |
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| Zeitschrift: | Circulation Genomic and Precision Medicine, Jg. 13 (2020-10-01), Heft 5 |
| Veröffentlichung: | eScholarship, University of California, 2020 |
| Medientyp: | academicJournal |
| Umfang: | 424 - 434 |
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