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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Hlavní autoři: Gupta, Arnab, Bhattacharjee, Ashima, Dmitriev, Oleg Y., Nokhrin, Sergiy, Braiterman, Lelita, Hubbard, Ann L., Lutsenko, Svetlana
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2011
Témata:
Biological Sciences
On-line přístup: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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