𝔖 Bobbio Scriptorium
✦   LIBER   ✦

FUNCTIONAL CHARACTERIZATION OF KCNJ2 MISSENSE VARIANTS IDENTIFIED IN PATIENTS WITH ANDERSEN-TAWIL SYNDROME

✍ Scribed by Hu Wang; Yanzhuo Ma; Joanna Huynh; Wesley Yu; Yutao Xi; Peter Hu; Jie Cheng; Daniel Penny; Yuxin Fan


Book ID
118582528
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
91 KB
Volume
59
Category
Article
ISSN
1558-3597

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Genotype-phenotype correlations of KCNJ2
✍ Yoshisumi Haruna; Atsushi Kobori; Takeru Makiyama; Hidetada Yoshida; Masaharu Ak πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 455 KB

Andersen-Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs). Mutations of KCNJ2, encoding the human inward rectifying potassium channel Kir 2.1, have been