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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Detalles Bibliográficos
Autores principales: Höflich, Clemens, Brieger, Angela, Zeuzem, Stefan, Plotz, Guido
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8027023/
https://www.ncbi.nlm.nih.gov/pubmed/33828154
http://dx.doi.org/10.1038/s41598-021-87000-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8027023/
https://www.ncbi.nlm.nih.gov/pubmed/33828154
http://dx.doi.org/10.1038/s41598-021-87000-9

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