
Doctor Mario Torrado
University of La Coruna, A Coruna (Spain)
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Presentation
A novel intronic mutation in the fibrillin 1 gene causes pseudoexon inclusion and premature termination in Marfan syndrome with aortic dilatation
Presentation
Functional mini-gene analysis reveals aberrant splicing due to an infrequent intronic mutation in the cardiomyopathy-associated MYBPC3 gene
Presentation

