Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China

BACKGROUND AND OBJECTIVE: Wilson disease (WD) is an autosomal recessive copper metabolic disorder caused by mutations in ATP7B. Sanger sequencing is currently used for ATP7B variant identification. However, the ATP7B gene contains 21 exons, which makes sequencing of the entire gene both complex and...

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Detalles Bibliográficos
Autores principales: Jia, Siyu, Li, Xiaojin, Zhang, Wei, Zhang, Bei, Wu, Zhen, Duan, Weijia, Ou, Xiaojuan, Zhou, Donghu, Huang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701891/
https://www.ncbi.nlm.nih.gov/pubmed/36253962
http://dx.doi.org/10.1002/jcla.24735

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701891/
https://www.ncbi.nlm.nih.gov/pubmed/36253962
http://dx.doi.org/10.1002/jcla.24735

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