Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies

Author:

Koopmann Tamara T.,Alders Marielle,Jongbloed Roselie J.,Guerrero Silvia,Mannens Marcel M.A.M.,Wilde Arthur A.M.,Bezzina Connie R.

Publisher

Elsevier BV

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine

Reference9 articles.

1. Long QT syndrome;Kass;J Clin Invest,2003

2. Spectrum of mutations in long-QT syndromes;Splawski;Circulation,2000

3. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing;Tester;Heart Rhythm,2005

4. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method;Hogervorst;Cancer Res,2003

5. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification;Schouten;Nucleic Acids Res,2002

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