A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next-generation sequencing and Sanger sequencing

Wilson disease (WD) is a rare autosomal recessive genetic disorder that causes abnormal copper metabolism, resulting in pathological accumulation of copper in the liver, brain and other organs. Mutations in the ATPase copper transporter 7B (ATP7B) gene, which encodes a membrane P-type adenosine trip...

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Detalles Bibliográficos
Autores principales: Liu, Wei-Liang, Li, Fang, Liu, Lu, Chen, Wei, He, Zhi-Xu, Gu, Hao, Ai, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896306/
https://www.ncbi.nlm.nih.gov/pubmed/31746411
http://dx.doi.org/10.3892/mmr.2019.10830

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896306/
https://www.ncbi.nlm.nih.gov/pubmed/31746411
http://dx.doi.org/10.3892/mmr.2019.10830

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