Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson’s Disease Using a Panel of 14 Common Mutations for the European Population

Background: Wilson’s disease (WD) is an autosomal recessive inherited disorder of copper metabolism resulting from various mutations in the ATP7B gene. Despite good knowledge and successful treatment options, WD is a severe disease that leads to disability, destructively affecting the quality of lif...

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Detalles Bibliográficos
Autores principales: Garbuz, Mikhail Maksimovich, Ovchinnikova, Anna Alexandrovna, Kumeiko, Vadim Vladimirovich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690040/
https://www.ncbi.nlm.nih.gov/pubmed/36360177
http://dx.doi.org/10.3390/genes13111940

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690040/
https://www.ncbi.nlm.nih.gov/pubmed/36360177
http://dx.doi.org/10.3390/genes13111940

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