Over 500 disease-causing point mutations in the human β-cardiac myosin heavy chain cluster at critical sequence points, revealing information about the function of this protein.
This review highlights that disease-causing mutations in the human β-cardiac myosin heavy chain cluster at critical sequence points, providing insights into the protein's function.
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Over 500 disease-causing point mutations have been found in the human β-cardiac myosin heavy chain, many quite recently with modern sequencing techniques. This review shows that clusters of these mutations occur at critical points in the sequence and investigates whether the many studies on these mutants reveal information about the function of this protein.
Colegrave et al. (Thu,) reported a other. Over 500 disease-causing point mutations in the human β-cardiac myosin heavy chain cluster at critical sequence points, revealing information about the function of this protein.