Article
High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy.
Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Sept 2011
Bortot Barbara, Athanasakis Emmanouil, Brun Francesca, Rizzotti Diego, Mestroni Luisa, Sinagra Gianfranco, Severini Giovanni Maria
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is the most frequent autosomal dominant genetic heart muscle disease and the most common cause of sudden cardiac death in young people (under 30 y of age), who are often unaware of their underlying condition. Genetic screening is now considered a fundamental tool for clinical management of HCM families. However, the high genetic heterogeneity of HCM makes genetic screening very...
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