A subscription to JoVE is required to view this content. Sign in or start your free trial.
Chapters
- 00:05Introduction
- 01:04Preparation and Transfection of Human Embryonic Kidney 293T (HEK293T) Cells
- 02:47Measurement of Luciferase Activity
- 04:26Results: Large-Scale Functional Screening of UBE3A Missense Variants Identifies Loss- and Gain-of-Function Mutations
- 05:56Conclusion
