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Distinct hypertrophic cardiomyopathy genotypes result in convergent sarcomeric proteoform profiles revealed by top-down proteomics
Hypertrophic cardiomyopathy (HCM) is the most common heritable heart disease. Although the genetic cause of HCM has been linked to mutations in genes encoding sarcomeric proteins, the ability to predict clinical outcomes based on specific mutations in HCM patients is limited. Moreover, how mutations...
Autores principales: | Tucholski, Trisha, Cai, Wenxuan, Gregorich, Zachery R., Bayne, Elizabeth F., Mitchell, Stanford D., McIlwain, Sean J., de Lange, Willem J., Wrobbel, Max, Karp, Hannah, Hite, Zachary, Vikhorev, Petr G., Marston, Steven B., Lal, Sean, Li, Amy, dos Remedios, Cristobal, Kohmoto, Takushi, Hermsen, Joshua, Ralphe, J. Carter, Kamp, Timothy J., Moss, Richard L., Ge, Ying |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
National Academy of Sciences
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7547245/ https://www.ncbi.nlm.nih.gov/pubmed/32968017 http://dx.doi.org/10.1073/pnas.2006764117 |
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