Epidemiology of Wilson’s Disease and Pathogenic Variants of the <i>ATP7B</i> Gene Leading to Diversified Protein Disfunctions

Epidemiology of Wilson’s Disease and Pathogenic Variants of the <i>ATP7B</i> Gene Leading to Diversified Protein Disfunctions

Wilson’s disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver, brain, and other organs. The disease is caused by pathogenic variants in the <i>ATP7B</i> gene, which encodes a P-type copper transport ATPase. Diagnosing WD is associated...

Full description

Bibliographic Details
Main Authors: Elena Vasilievna Ovchinnikova, Mikhail Maksimovich Garbuz, Anna Aleksandrovna Ovchinnikova, Vadim Vladimirovich Kumeiko
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:International Journal of Molecular Sciences
Subjects:
Wilson’s disease (WD)
copper transport ATPase
prevalence
genetic diagnosis
Online Access:https://www.mdpi.com/1422-0067/25/4/2402

Internet

https://www.mdpi.com/1422-0067/25/4/2402

Similar Items