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Copyright © 2005 American Medical Association. All rights reserved.

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Presentation on theme: "Copyright © 2005 American Medical Association. All rights reserved."— Presentation transcript:

1 Copyright © 2005 American Medical Association. All rights reserved.
From: Genetic Testing in the Long QT SyndromeDevelopment and Validation of an Efficient Approach to Genotyping in Clinical Practice JAMA. 2005;294(23): doi: /jama Figure Legend: The percentage of individuals for each 20-millisecond cluster of corrected QT duration in the 2 groups of genetically affected (n = 817) and nongenetically affected individuals (n = 521). Numbers on the x-axis represent the cluster upper limit. Date of download: 11/8/2017 Copyright © 2005 American Medical Association. All rights reserved.

2 Copyright © 2005 American Medical Association. All rights reserved.
From: Genetic Testing in the Long QT SyndromeDevelopment and Validation of an Efficient Approach to Genotyping in Clinical Practice JAMA. 2005;294(23): doi: /jama Figure Legend: A 3-tier approach for genetic screening. The first step includes identification of nonprivate mutations, codons that harbor mutations occurring more than once in the long QT population (expected genotyping of up to 58% of carriers of mutations on the 5 long QT syndrome [LQTS] genes included in this study. See the “Methods” section for details). The second step is the complete screening of the coding regions of the 2 most prevalent loci (LQT1 and LQT2). This second step allows the identification of an additional 32% of carriers of mutations on the 5 LQTS genes included in this study. The final step that provides the identification of the final 10% of mutation carriers requires the screening of the open reading frame of genes SCN5A, KCNE1, and KCNE2. Date of download: 11/8/2017 Copyright © 2005 American Medical Association. All rights reserved.


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