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Access, uptake and communication of genetic test results in Australian families with long QT syndrome (LQTS)

โœ Scribed by Burns, C.; Semsarian, C.; Ingles, J.


Book ID
125827204
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
226 KB
Volume
23
Category
Article
ISSN
1443-9506

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Mutations at KCNQ1 and an unknown locus
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## 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