Genetic, clinical, molecular, and pathogenic aspects of the South Asian–specific polymorphic MYBPC3(Δ25bp) variant

Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by ventricular enlargement, diastolic dysfunction, and increased risk for sudden cardiac death. Sarcomeric genetic defects are the predominant known cause of HCM. In particular, mutations in the myosin-binding protein C gen...

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Vydáno v:Biophys Rev
Hlavní autoři: Arif, Mohammed, Nabavizadeh, Pooneh, Song, Taejeong, Desai, Darshini, Singh, Rohit, Bazrafshan, Sholeh, Kumar, Mohit, Wang, Yigang, Gilbert, Richard J., Dhandapany, Perundurai S., Becker, Richard C., Kranias, Evangelia G., Sadayappan, Sakthivel
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2020
Témata:
Review
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7429610/
https://ncbi.nlm.nih.gov/pubmed/32656747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12551-020-00725-1
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