Article
Analysis of Wilson disease mutations in copper binding domain of ATP7B gene.
PloS one - 1 Jan 2022
Gul Bushra, Firasat Sabika, Tehreem Raeesa, Shan Tayyaba, Afshan Kiran
Abstract excerpt
Wilson's disease (WD) is an autosomal recessive disorder, resulting from variations in ATP7B gene. Clinical heterogeneity, including neuropsychiatric and hepatic manifestations over a large range of age groups make diagnosis difficult. Most of WD patients suffer severe disabilities and even die. So, overall goal of proposed study is the genetic and clinical characterization of Wilson's disease cases from...
Topics
- Adenosine Triphosphatases
- Copper
- Copper-Transporting ATPases
- Hepatolenticular Degeneration
- Humans
- Mutation