原因不明の突然死:生存する親戚における心臓学および遺伝学的検査の遺伝性と診断結果

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Updated: Jun 8, 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

Hanno L Tan1, Nynke Hofman, Irene M van Langen

  • 1Department of Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Circulation
|July 7, 2005
PubMed
まとめ

若い突然の原因不明死 (SUD) の犠牲者の親戚を調査すると,家族の40%で遺伝性心疾患を特定しました. この戦略は,前症候のキャリアを効果的に暴露し,早期診断と致死性不律症の予防に役立ちます.

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