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Modifying factors and phenotypic diversity in Wilson’s disease

Wilson’s disease (WD) is a human disorder of copper homeostasis caused by mutations in the copper-transporting ATPase ATP7B. WD is characterized by copper accumulation, predominantly in the liver and brain; hepatic pathology; and wide differences between patients in the age of onset and the spectrum...

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Detalhes bibliográficos
Autor principal: Lutsenko, Svetlana
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4083489/
https://ncbi.nlm.nih.gov/pubmed/24702697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/nyas.12420
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