Analysis of Wilson disease mutations in copper binding domain of ATP7B gene

Wilson’s disease (WD) is an autosomal recessive disorder, resulting from variations in ATP7B gene. Clinical heterogeneity, including neuropsychiatric and hepatic manifestations over a large range of age groups make diagnosis difficult. Most of WD patients suffer severe disabilities and even die. So,...

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Detalles Bibliográficos
Autores principales: Gul, Bushra, Firasat, Sabika, Tehreem, Raeesa, Shan, Tayyaba, Afshan, Kiran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9239485/
https://www.ncbi.nlm.nih.gov/pubmed/35763513
http://dx.doi.org/10.1371/journal.pone.0269833

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9239485/
https://www.ncbi.nlm.nih.gov/pubmed/35763513
http://dx.doi.org/10.1371/journal.pone.0269833

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