Identifies a novel missense mutation (Arg719Gln) in the β-cardiac heavy chain myosin gene associated with familial hypertrophic cardiomyopathy.
Journal Article A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy Get access Michael W. Consevage, Michael W. Consevage Department of Pediatrics, Milton S.Hershey Medical Center, Pennsylvania State UniversityHershey, PA 17036, USA *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Grant C. Salada, Grant C. Salada Department of Pediatrics, Milton S.Hershey Medical Center, Pennsylvania State UniversityHershey, PA 17036, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Barry G. Baylen, Barry G. Baylen Department of Pediatrics, Milton S.Hershey Medical Center, Pennsylvania State UniversityHershey, PA 17036, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Roger L. Ladda, Roger L. Ladda Department of Pediatrics, Milton S.Hershey Medical Center, Pennsylvania State UniversityHershey, PA 17036, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Peter K. Rogan Peter K. Rogan Department of Pediatrics, Milton S.Hershey Medical Center, Pennsylvania State UniversityHershey, PA 17036, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 3, Issue 6, June 1994, Pages 1025–1026, https://doi.org/10.1093/hmg/3.6.1025 Published: 01 June 1994 Article history Received: 25 March 1994 Accepted: 15 April 1994 Published: 01 June 1994
Consevage et al. (Sat,) studied this question.