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Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations
Pathogenic genetic variants in the ATP7B gene cause Wilson disease, a recessive disorder of copper metabolism showing a significant variability in clinical phenotype. Promoter mutations have been rarely reported, and controversial data exist on the site of transcription initiation (the core promoter...
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| Опубликовано в: : | Sci Rep |
|---|---|
| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group UK
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8027023/ https://ncbi.nlm.nih.gov/pubmed/33828154 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-87000-9 |
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