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Mutations at the Same Amino Acid in Myosin that Cause Either Skeletal or Cardiac Myopathy Have Distinct Molecular Phenotypes

To date, more than 230 disease causing mutations have been linked to the slow/cardiac muscle myosin gene, β-MyHC (MYH7). The majority of these mutations are located in the globular head region of the protein and result in cardiomyopathies. Recently, however, a number of novel disease causing mutatio...

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Détails bibliographiques
Auteurs principaux: Armel, Thomas Z., Leinwand, Leslie A.
Format: Artigo
Langue:Inglês
Publié: 2009
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2854248/
https://ncbi.nlm.nih.gov/pubmed/19854198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.yjmcc.2009.10.011
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