𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Two KCNE1 mutations in N-terminus and C-terminus result in relatively mild phenotype of long QT syndrome

✍ 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.


πŸ“œ SIMILAR VOLUMES


Molecular genetics of the long QT syndro
✍ Kirsi Saarinen; Heikki Swan; Katariina Kainulainen; Lauri Toivonen; Matti Viitas πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 213 KB πŸ‘ 3 views

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

Sodium channel abnormalities are infrequ
✍ Wattanasirichaigoon, Duangrurdee; Vesely, Mark R.; Duggal, Priya; Levine, Jami C πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 59 KB πŸ‘ 2 views

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