Two KCNE1 mutations in N-terminus and C-terminus result in relatively mild phenotype of long QT syndrome
β Scribed by Ohno, Seiko; Hidetada, Yoshida; Tsuji, Keiko; Takenaka, Kotoe; Makiyama, Takeru; Doi, Takahiro; Akao, Masaharu; Kita, Toru; Horie, Minoru
- Book ID
- 123322296
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 57 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1547-5271
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
At least three different gene loci were recently shown to account for the long QT syndrome (LQTS), a monogenic disorder with altered myocardial repolarization and occurrence of life-threatening cardiac arrhythmias. We screened 44 unrelated probands for mutations of the gene encoding the cardiac pota
Long QT syndrome (LQTS) is a heterogeneous disorder caused by mutations of at least five different loci. Three of these, LQT1, LQT2, and LQT5, encode potassium channel subunits. LQT3 encodes the cardiac-specific sodium channel, SCN5A. Previously reported LQTS-associated mutations of SCN5A include a