A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20

Hum Mutat. 2001;17(1):81. doi: 10.1002/1098-1004(2001)17:1<81::AID-HUMU30>3.0.CO;2-X.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aortic Stenosis, Supravalvular / genetics*
  • Cytosine*
  • Elastin / genetics*
  • Exons / genetics*
  • Female
  • Frameshift Mutation
  • Humans
  • Male
  • Mutation / genetics*
  • Myocardial Infarction / genetics
  • Nuclear Family
  • Point Mutation
  • Sequence Deletion / genetics*

Substances

  • Cytosine
  • Elastin