創始者集団における先天性QT長症候群のフェノタイプの変動性と異常な臨床的重症度

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Updated: Jul 9, 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

Paul A Brink1, Lia Crotti, Valerie Corfield

  • 1Department of Internal Medicine, University of Stellenbosch, South Africa.

Circulation
|October 26, 2005
PubMed
まとめ

生まれながらの長QT症候群 (LQTS) に関するこの研究では,南アフリカで一般的なKCNQ1-A341V変異が重度の表型を引き起こすことが判明しました. 変異媒介者の心拍数低下は,心疾患のリスク低下と関連していた.

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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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