Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B 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 gene, which encodes a P-type copper transport ATPase. Diagnosing WD is associated with numerous diffi...

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Veröffentlicht in:	International journal of molecular sciences 2024-02, Vol.25 (4), p.2402
Hauptverfasser:	Ovchinnikova, Elena Vasilievna, Garbuz, Mikhail Maksimovich, Ovchinnikova, Anna Aleksandrovna, Kumeiko, Vadim Vladimirovich
Format:	Artikel
Sprache:	eng
Schlagworte:	Brain Copper Copper-Transporting ATPases - genetics Disease Epidemiology Genetic disorders Hepatolenticular Degeneration - epidemiology Hepatolenticular Degeneration - genetics Humans Liver Mutation Pathology Patients Proteins Registration
Online-Zugang:	Volltext
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