Exercise Intolerance and Low Cardiac Filling Pressures in a Woman With a Novel eNOS Mutation

Circ Genom Precis Med. 2024 Oct;17(5):e004741. doi: 10.1161/CIRCGEN.124.004741. Epub 2024 Sep 27.
No abstract available

Keywords: endothelial cells; exercise test; exercise tolerance; exome sequencing; gene frequency; nitric oxide synthase.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Exercise Tolerance* / genetics
  • Female
  • Humans
  • Middle Aged
  • Mutation*
  • Nitric Oxide Synthase Type III* / genetics
  • Nitric Oxide Synthase Type III* / metabolism

Substances

  • Nitric Oxide Synthase Type III
  • NOS3 protein, human