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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Detaylı Bibliyografya
Yayımlandı:Proc Natl Acad Sci U S A
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 2020
Konular:
Physical Sciences
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7547245/
https://ncbi.nlm.nih.gov/pubmed/32968017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2006764117
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