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Genomic organization and mutational analysis ofKVLQT1, a gene responsible for familial long QT syndrome

✍ Scribed by Toshio Itoh; T. Tanaka; Ryozo Nagai; Kenjiro Kikuchi; Satoshi Ogawa; Shintaro Okada; Shiro Yamagata; Katsusuke Yano; Yoshio Yazaki; Yusuke Nakamura

Book ID
106137025
Publisher
Springer
Year
1998
Tongue
English
Weight
130 KB
Volume
103
Category
Article
ISSN
0340-6717

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πŸ“œ SIMILAR VOLUMES

Mutations at KCNQ1 and an unknown locus
Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing
✍ Kim M. Summers; Nilesh J. Bokil; Foong Teng Lu; Jiun Tsuen Low; John M. Baisden; πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 241 KB

## Abstract A large Australian family affected with long QT syndrome (LQTS) was studied. The medical characteristics of the 16 clinically affected members were consistent with LQT1. A previously identified mutation in __KCNQ1__ was found in 12 affected individuals and 1 unaffected infant but absent