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Genetics and epigenetic factors of Wilson disease

Wilson disease (WD) is a complex condition due to copper accumulation mainly in the liver and brain. The genetic base of WD is represented by pathogenic mutations of the copper-transporting gene ATP7B with consequent lack of copper excretion through the biliary tract. ATP7B is the only gene so far i...

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Détails bibliographiques
Publié dans:Ann Transl Med
Auteurs principaux: Medici, Valentina, LaSalle, Janine M.
Format: Artigo
Langue:Inglês
Publié: AME Publishing Company 2019
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6531661/
https://ncbi.nlm.nih.gov/pubmed/31179295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.01.67
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