Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5905010 | European Journal of Medical Genetics | 2012 | 4 Pages |
Abstract
⺠Mutations in the MYBPC3 gene represent the most prevalent genetic cause of DCM. ⺠70% of MYBPC3 mutations introduce a premature termination codon. ⺠MYBPC3 analysis by MLPA confirms clinical diagnosis in less than 1% of HCM patients. ⺠Characterization of the first large MYBPC3 deletion reported in the literature.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Genetics
Authors
V. Chanavat, M.F. Seronde, P. Bouvagnet, P. Chevalier, R. Rousson, G. Millat,