Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.
ATP7B gene
Molecular genetic diagnosis
Mutations
Wilson disease
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
23
03
2023
revised:
23
05
2023
accepted:
30
05
2023
medline:
16
6
2023
pubmed:
16
6
2023
entrez:
16
6
2023
Statut:
epublish
Résumé
Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the In this study, the presented symptoms of WD, the biochemical parameters as well as its natural history are described based on cases collected in Mohammed VI Hospital University of Marrakech (Morocco). We screened and sequenced 21 exons of Mutational assessment of the Our study is the first molecular analysis in Moroccan patients with Wilson's disease, the
Sections du résumé
Background
UNASSIGNED
Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the
Methods
UNASSIGNED
In this study, the presented symptoms of WD, the biochemical parameters as well as its natural history are described based on cases collected in Mohammed VI Hospital University of Marrakech (Morocco). We screened and sequenced 21 exons of
Results
UNASSIGNED
Mutational assessment of the
Conclusion
UNASSIGNED
Our study is the first molecular analysis in Moroccan patients with Wilson's disease, the
Identifiants
pubmed: 37323222
doi: 10.1016/j.ymgmr.2023.100984
pii: S2214-4269(23)00030-7
pmc: PMC10267639
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100984Informations de copyright
© 2023 Published by Elsevier Inc.
Déclaration de conflit d'intérêts
The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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