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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Vydáno v:Sci Rep
Hlavní autoři: Roy, Shubhrajit, McCann, Courtney J., Ralle, Martina, Ray, Kunal, Ray, Jharna, Lutsenko, Svetlana, Jayakanthan, Samuel
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2020
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Article
On-line přístup: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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