A new mutation in the elastin gene causing supravalvular aortic stenosis

This publication has 8 references indexed in Scilit:

• Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis
  Human Molecular Genetics, 1997
• Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.
  Human Molecular Genetics, 1997
• Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia
  Nature Biotechnology, 1996
• A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis
  Human Molecular Genetics, 1995
• A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.
  Proceedings of the National Academy of Sciences, 1993
• The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
  Published by Elsevier ,1993
• Supravalvular aortic stenosis
  The Journal of Thoracic and Cardiovascular Surgery, 1977
• Supravalvar aortic stenosis.
  Heart, 1973