• Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2 

      Christiansen, Michael; Hedley, Paula L.; Theilade, Juliane; Stoevring, Birgitte; Leren, Trond P.; Eschen, Ole; Sørensen, Karina M.; Tybjærg-Hansen, Anne; Ousager, Lilian B.; Pedersen, Lisbeth N.; Frikke-Schmidt, Ruth; Aidt, Frederik H.; Hansen, Michael G.; Hansen, Jim; Bloch Thomsen, Poul E.; Toft, Egon; Henriksen, Finn L.; Bundgaard, Henning; Jensen, Henrik K.; Kanters, Jorgen K. (BioMed Central, 2014-03)
      Background: Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which ...