Characterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editing
Mitochondrial diseases are highly complex, debilitating conditions impacting 1 in every 6,000 to 8,000 live births. Investigation of patient variants by generating cellular models is vital to a timely and accurate diagnosis. This thesis demonstrates the first instance of combining prime editing syst...
| Main Author: | |
|---|---|
| Format: | Thesis |
| Published: |
Curtin University
2024
|
| Online Access: | http://hdl.handle.net/20.500.11937/96637 |