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Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B

Wilson disease (WD) is a monogenic autosomal-recessive disorder of copper accumulation that leads to liver failure and/or neurological deficits. WD is caused by mutations in ATP7B, a transporter that loads Cu(I) onto newly synthesized cupro-enzymes in the trans-Golgi network (TGN) and exports excess...

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Detalhes bibliográficos
Main Authors: Braiterman, Lelita T., Murthy, Amrutha, Jayakanthan, Samuel, Nyasae, Lydia, Tzeng, Eric, Gromadzka, Grazyna, Woolf, Thomas B., Lutsenko, Svetlana, Hubbard, Ann L.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3986166/
https://ncbi.nlm.nih.gov/pubmed/24706876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1314161111
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