Concepedia

A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

Michael W. Consevage, Grant C. Salada, Barry G. Baylen, Roger L. Ladda, Peter K. Rogan

Human Molecular Genetics · 1994 · 52 citations · 0 references

Concepts

MedicineGeneticsPediatricsHuman GeneticsMedical GeneticsPediatric CardiologyGenetic DisordersHypertrophic Cardiomyopathy GeneticsInherited CardiomyopathiesPediatric Cardiac GeneticsFamilial Cardiomyopathy GeneticsMissense MutationsMutationMyofibrillar Gene VariantsPrimary Genetic CardiomyopathySarcomeric Gene Variants

Abstract

Michael W. Consevage, Grant C. Salada, Barry G. Baylen, Roger L. Ladda, Peter K. Rogan; A new missense mutation, Arg719Gln, in the β-cardiac heavy chain my