A schematic image shows how to detect brain specific mutations using next-generation sequencing technology with blood-brain paired samples. Simple comparison of non-overlapping mutations between ...
MDR3 defects are involved in the development of PFIC3, LPAC, ICP, and DILI. Sterolin 1/2 are cotransporters that transport plant sterols and can lead to sitosterolemia if mutated. MRP2 is responsible ...