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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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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
National Academy of Sciences
2014
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| Soggetti: | |
| Accesso online: | 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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