Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified

BACKGROUND: Wilson's disease (WD) is a rare autosomal recessive inherited disorder that is induced by defects of the ATP7B gene and characterized by damage to the liver and nervous system caused by aberrant copper metabolism. The identification of pathogenic mutations on two homologous chromoso...

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Detalles Bibliográficos
Autores principales: Xiao, Zhongyan, Yang, Yuan, Huang, Hui, Tang, Haiyan, Liu, Liqun, Tang, Jianguang, Shi, Xiaoliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457707/
https://www.ncbi.nlm.nih.gov/pubmed/34324271
http://dx.doi.org/10.1002/mgg3.1735

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457707/
https://www.ncbi.nlm.nih.gov/pubmed/34324271
http://dx.doi.org/10.1002/mgg3.1735

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