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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4345808/ https://www.ncbi.nlm.nih.gov/pubmed/25351510 http://dx.doi.org/10.1136/heartjnl-2014-306387 |
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