SINGLE NUCLEOTIDE POLYMORPHISMS IN HUMAN ATP7B GENE MODIFY PROPERTIES OF ATP7B PROTEIN

Single nucleotide polymorphisms (SNPs) are the largest source of sequence variation in the human genome. However, their functional significance is not well understood. We show that SNPs in the Wilson disease gene, ATP7B, that produce amino-acid substitutions K832R and R952K, modulate ATP7B propertie...

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Detalhes bibliográficos
Publicado no:Metallomics
Main Authors: McCann, Courtney J., Jayakanthan, Samuel, Siotto, Mariacristina, Yang, Nan, Osipova, Maria, Squitti, Rosanna, Lutsenko, Svetlana
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6878656/
https://ncbi.nlm.nih.gov/pubmed/31070637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1039/c9mt00057g
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