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Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing

โœ Scribed by Dipika Sharma; Kathryn A Glatter; V Timofeyev; Dipika Tuteja; Zhao Zhang; Jennifer Rodriguez; David J Tester; Reginald Low; Melvin M Scheinman; Michael J Ackerman; Nipavan Chiamvimonvat


Book ID
116983484
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
871 KB
Volume
37
Category
Article
ISSN
0022-2828

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Mutations at KCNQ1 and an unknown locus
โœ Kim M. Summers; Nilesh J. Bokil; Foong Teng Lu; Jiun Tsuen Low; John M. Baisden; ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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