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Funktionelle Charakterisierung endogen exprimierter humaner RYR1-Varianten
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Funktionelle Charakterisierung endogen exprimierter humaner RYR1-Varianten

Article DOI: 10.3791/62196-v • 07:59 min • June 9th, 2021
June 9th, 2021 •
1,2, 3, 1,2
1Department of Biomedicine, Basel University Hospital, 2Department of Life Sciences, University of Ferrara, 3Department of Anesthesia, Basel University Hospital

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Hier werden Methoden zur Untersuchung der funktionellen Wirkung von RYR1-Mutationen beschrieben, die endogen in immortalisierten menschlichen B-Lymphozyten und muskelbiopsiebasierten Satellitenzellen exprimiert werden, die in Myotuben differenziert sind.

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Medizin RYR1 Mutationen funktionelle Charakterisierung endogene Expression Myotuben EBV-Lymphoblasten Calcium Dosis-Wirkungs-Beziehung
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