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Updated: Feb 14, 2026

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

Published on: January 16, 2019

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長期QT症候群の遺伝的検査における潜在的に不律性のある一般的な遺伝的変異の分類と報告

John R Giudicessi1, Dan M Roden2, Arthur A M Wilde3

  • 1Departments of Cardiovascular Medicine and Internal Medicine, Clinician-Investigator Training Program, Mayo Clinic, Rochester, MN (J.R.G).

Circulation
|February 13, 2018
PubMed
まとめ

一般的な遺伝的変異は長QT症候群 (LQTS) のリスクを高めますが,現在のガイドラインでは報告が制限されています. これは 生命を脅かす不律症に対する 患者の完全な遺伝的易感性を 隠すことができます

キーワード:
心律乱症遺伝子検査遺伝的変異長いQTシンドローム心臓発作による突然死

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