Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2

Analysis of the human KCNH2(HERG) gene:

Analysis of the human KCNH2(HERG) gene: Identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion

✍ Aimée Paulussen; Ping Yang; Menelas Pangalos; Peter Verhasselt; Roger Marrannes; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 2 views

Long QT (LQT) syndrome is a potentially life-threatening disorder, characterized by a distinct cardiac arrhythmia known as torsades de pointes. Mutations within a number of genes linked to the familial form, including that coding for a cardiac potassium channel called KCNH2 (HERG), have been describ