Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history

Clin Genet. 2017 Oct;92(4):444-446. doi: 10.1111/cge.13000. Epub 2017 Apr 12.
No abstract available

Publication types

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

MeSH terms

  • Aged
  • Aneurysm, Dissecting / genetics*
  • Aneurysm, Dissecting / physiopathology
  • Aortic Aneurysm, Thoracic / genetics*
  • Aortic Aneurysm, Thoracic / physiopathology
  • Calcium-Binding Proteins / genetics*
  • Codon, Nonsense / genetics
  • Female
  • Haploinsufficiency / genetics
  • Humans
  • Male
  • Medical History Taking
  • Middle Aged
  • Myosin-Light-Chain Kinase / genetics*
  • Pedigree

Substances

  • Calcium-Binding Proteins
  • Codon, Nonsense
  • MYLK protein, human
  • Myosin-Light-Chain Kinase