Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

OBJECTIVE: A predictable relation between genotype and disease expression is needed in order to use genetic testing for clinical decision-making in hypertrophic cardiomyopathy (HCM). The primary aims of this study were to examine the phenotypes associated with sarcomere protein (SP) gene mutations a...

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Detaylı Bibliyografya
Yayımlandı:Heart
Asıl Yazarlar: Lopes, Luis R, Syrris, Petros, Guttmann, Oliver P, O'Mahony, Constantinos, Tang, Hak Chiaw, Dalageorgou, Chrysoula, Jenkins, Sharon, Hubank, Mike, Monserrat, Lorenzo, McKenna, William J, Plagnol, Vincent, Elliott, Perry M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Publishing Group 2015
Konular:
Heart Failure and Cardiomyopathies
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4345808/
https://ncbi.nlm.nih.gov/pubmed/25351510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/heartjnl-2014-306387
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