Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations
Abstract 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...
Enregistré dans:
| Auteurs principaux: | , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/2df93a0a50b94902ad043546d5a053b7 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|