A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis

Abstract

Journal Article A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis Get access Timothy M. Olson, Timothy M. Olson 1Department of Laboratory Medicine and Pathology2Section of Pediatric Cardiology Search for other works by this author on: Oxford Academic PubMed Google Scholar Virginia V. Michels, Virginia V. Michels 3Department of Medical Genetics, Mayo ClinicRochester, Minnesota 55905 Search for other works by this author on: Oxford Academic PubMed Google Scholar Zsolt Urban, Zsolt Urban 4Department of Surgery, UMDNJ-Robert Wood Johnson Medical SchoolNew Brunswick, New Jersey 08901 Search for other works by this author on: Oxford Academic PubMed Google Scholar Katalin Cslszar, Katalin Cslszar 4Department of Surgery, UMDNJ-Robert Wood Johnson Medical SchoolNew Brunswick, New Jersey 08901 Search for other works by this author on: Oxford Academic PubMed Google Scholar Angela M. Christiano, Angela M. Christiano 5Department of Dermatology, Jefferson Medical CollegePhiladelphia, Pennsylvania, 19107, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar David J. Driscoll, David J. Driscoll 2Section of Pediatric Cardiology Search for other works by this author on: Oxford Academic PubMed Google Scholar Robert H. Feldt, Robert H. Feldt 2Section of Pediatric Cardiology Search for other works by this author on: Oxford Academic PubMed Google Scholar Charles D. Boyd, Charles D. Boyd 4Department of Surgery, UMDNJ-Robert Wood Johnson Medical SchoolNew Brunswick, New Jersey 08901 Search for other works by this author on: Oxford Academic PubMed Google Scholar Stephen N. Thibodeau Stephen N. Thibodeau * 1Department of Laboratory Medicine and Pathology3Department of Medical Genetics, Mayo ClinicRochester, Minnesota 55905 *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 9, September 1995, Pages 1677–1679, https://doi.org/10.1093/hmg/4.9.1677 Published: 01 September 1995 Article history Received: 01 May 1995 Revision received: 01 June 1995 Accepted: 01 June 1995 Published: 01 September 1995