Article ID Journal Published Year Pages File Type
5905010 European Journal of Medical Genetics 2012 4 Pages PDF
Abstract
► Mutations in the MYBPC3 gene represent the most prevalent genetic cause of DCM. ► 70% of MYBPC3 mutations introduce a premature termination codon. ► MYBPC3 analysis by MLPA confirms clinical diagnosis in less than 1% of HCM patients. ► Characterization of the first large MYBPC3 deletion reported in the literature.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
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