エクソーム全体の配列決定を用いて,複数のミトコンドリア呼吸器連鎖複合体の欠陥の遺伝的基礎を決定する

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Updated: Apr 26, 2026

Hybrid Clear/Blue Native Electrophoresis for the Separation and Analysis of Mitochondrial Respiratory Chain Supercomplexes
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Published on: May 19, 2019

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Robert W Taylor1, Angela Pyle2, Helen Griffin2

  • 1Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, England.

JAMA
|July 25, 2014
PubMed
まとめ

全エクソーム配列解析により,患者の60%において,複数の呼吸器連鎖複合体の欠陥の遺伝的原因が特定されました. このアプローチは,核遺伝子変異を正確に特定することによって,希少な遺伝性ミトコンドリア疾患の診断に役立ちます.

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