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Updated: May 5, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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長いQT症候群の遺伝子検査:病原性変異を良性変異から区別する

Suraj Kapa1, David J Tester, Benjamin A Salisbury

  • 1Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA.

Circulation
|October 21, 2009
PubMed
まとめ

長いQT症候群 (LQTS) の遺伝検査は,病原性変異の特定に依存しています. 変異の種類と位置は,病気を引き起こす変異種と珍しい変異種を区別するために,特にミスセンスの変異を区別するために重要です.

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