Lataa...
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...
Tallennettuna:
| Päätekijät: | , , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
National Academy of Sciences
2011
|
| Aiheet: | |
| Linkit: | 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 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|