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Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

In 10-30% of hypertrophic cardiomyopathy kindreds, the disease is caused by > 29 missense mutations in the cardiac beta-myosin heavy chain (MYH7) gene. The amino acid sequence similarity between chicken skeletal muscle and human beta-cardiac myosin and the three-dimensional structure of the chicken...

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Podrobná bibliografie
Vydáno v:Proc Natl Acad Sci U S A
Hlavní autoři: Rayment, I, Holden, H M, Sellers, J R, Fananapazir, L, Epstein, N D
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 1995
Témata:
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC42062/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7731997/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.9.3864
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