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Article

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

JAMA - 21 Dec 2005

Napolitano Carlo, Priori Silvia G, Schwartz Peter J, Bloise Raffaella, Ronchetti Elena, Nastoli Janni, Bottelli Georgia, Cerrone Marina, Leonardi Sergio

Abstract excerpt

CONTEXT: In long QT syndrome (LQTS), disease severity and response to therapy vary according to the genetic loci. There exists a critical need to devise strategies to expedite genetic analysis. OBJECTIVE: To perform genetic screening in patients with LQTS to determine the yield of genetic testing, as well as the type and the prevalence of mutations. DESIGN, PATIENTS, AND SETTING: We investigated whether the...

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Identifiers

PMID: 16414944
DOI: 10.1001/jama.294.23.2975

Genes

KCNH2
KCNQ1

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