Article
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
Human mutation - 1 Dec 2018
Kumari Niti, Kumar Aman, Thapa Babu Ram, Modi Manish, Pal Arnab, Prasad Rajendra
Abstract excerpt
Wilson disease (WD), a copper metabolism disorder, occurs due to the presence of mutations in the gene encoding ATP7B, a protein that primarily facilitates hepatic copper excretion. A better understanding of spectrum and functional significance of ATP7B variants is critical to formulating targeted and personalized therapies. Henceforth, we screened and sequenced 21 exons of ATP7B gene from 50 WD patients and 60...
Topics
- Adolescent
- Adult
- Case-Control Studies
- Cell Line
- Cell Survival
- Child
- Child, Preschool
- Cohort Studies
- Copper-Transporting ATPases
- Female
- HeLa Cells