Article
A PCR-based integrated protocol for the structural analysis of the 13th exon of the human beta-myosin heavy chain gene (MYH7): development of a diagnostic tool for HCM disease.
Experimental and molecular pathology - 1 Jun 2008
Stravopodis Dimitrios J, Zapheiropoulos Athanassios Z, Voutsinas Gerassimos, Margaritis Lukas H, Papassideri Issidora S
Abstract excerpt
Familial Hypertrophic Cardiomyopathy (FHC) constitutes a genetic disease of the sarcomere characterized by a Mendelian pattern of inheritance. A variety of different mutations affecting the at least eight sarcomeric gene products has been identified and the majority of them appear to function through a dominant negative mechanism. Family history analysis and genetic counseling have been widely adopted as integral...
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