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Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties
Wilson disease (WD) is an autosomal-recessive disorder caused by mutations in the copper (Cu)-transporter ATP7B. Thus far, studies of WD mutations have been limited to analysis of ATP7B mutants in the homozygous states. However, the majority of WD patients are compound-heterozygous, and how differen...
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| Gepubliceerd in: | Sci Rep |
|---|---|
| Hoofdauteurs: | , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group UK
2020
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7418023/ https://ncbi.nlm.nih.gov/pubmed/32778786 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-70366-7 |
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