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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2020
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