Article
Copper-Induced Epigenetic Changes Shape the Clinical Phenotype in Wilson's Disease.
Current medicinal chemistry - 1 Jan 2021
Fanni Daniela, Gerosa Clara, Nurchi Valeria Marina, Cappai Rosita, Mureddu Marta, Eyken Peter Van, Saba Luca, Manchia Mirko, Faa Gavino
Abstract excerpt
Wilson's disease is a congenital disorder of copper metabolism whose pathogenesis remains, at least in part, unknown. Subjects carrying the same genotype may show completely different phenotypes, differing for the age at illness onset or for the hepatic, neurologic or psychiatric clinical presentation. The inability to find a unequivocal correlation between the type of mutation in the ATPase copper transporting...
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