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Updated: Jun 23, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

短QT症候群に関連した突然死は,HERGの変異に関連しています

Ramon Brugada1, Kui Hong, Robert Dumaine

  • 1Molecular Genetics Program, Masonic Medical Research Laboratory, 2150 Bleecker St, Utica, NY 13501, USA. brugada@mmrl.edu

Circulation
|December 17, 2003
PubMed
まとめ

KCNH2遺伝子の遺伝子変異は,新しい形態の短QT症候群を引き起こし,若い個人に突然の心臓死をもたらします. この発見は,これらの珍しい心疾患の診断と治療に関する洞察を提供します.

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Dysrhythmias II: Classification of Tachyarrhythmias

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Dysrhythmias III: Characteristics of Dysrhythmias

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ECG Interpretation of Arrhythmias II: Atrial, Junctional and Ventricular Arrhythmias

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