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Cellular copper levels determine the phenotype of the Arg(875) variant of ATP7B/Wilson disease protein
In human disorders, the genotype-phenotype relationships are often complex and influenced by genetic and/or environmental factors. Wilson disease (WD) is a monogenic disorder caused by mutations in the copper-transporting P-type ATPase ATP7B. WD shows significant phenotypic diversity even in patient...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
National Academy of Sciences
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3069211/ https://ncbi.nlm.nih.gov/pubmed/21406592 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1014959108 |
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