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Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications

✍ Scribed by ZMA Shinwari; A Al-Hazzani; N Dzimiri; S Tulbah; Y Mallawi; M Al-Fayyadh; ZN Al-Hassnan


Book ID
119839661
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
530 KB
Volume
83
Category
Article
ISSN
0009-9163

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Mutations at KCNQ1 and an unknown locus
✍ 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