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Updated: Jun 19, 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

生まれながらの長QT症候群の罹患率

Peter J Schwartz1, Marco Stramba-Badiale, Lia Crotti

  • 1Department of Lung, Blood, and Heart, University of Pavia, Pavia, Italy. peter.schwartz@unipv.it

Circulation
|October 21, 2009
PubMed
まとめ

この研究では,新生児におけるLong-QT症候群 (LQTS) の罹患率を決定し,2534人の白人乳児のうち少なくとも1人に罹患していることが判明しました. 早期のEKGと遺伝子スクリーニングは,予防的なケアのために,罹患した乳児と親戚を特定することができます.

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