Clinical and genetic characterization of pediatric patients with Wilson’s disease from Yunnan province where ethnic minorities gather

Background: Wilson’s disease (WD) is an autosomal recessive disease that is caused by mutations in the ATP7B (a copper-transporting P-type ATPase) gene. The disease has a low prevalence and is characterized by a copper metabolism disorder. However, various characteristics of the disease are determin...

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Detalles Bibliográficos
Autores principales: Wang, Yanjun, Fang, Jiahui, Li, Bin, Li, Chongyang, Liu, Shan, He, Juan, Tao, Lvyan, Li, Cuifen, Yang, Ya, Li, Li, Xiao, Shufang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10067573/
https://www.ncbi.nlm.nih.gov/pubmed/37020998
http://dx.doi.org/10.3389/fgene.2023.1142968

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10067573/
https://www.ncbi.nlm.nih.gov/pubmed/37020998
http://dx.doi.org/10.3389/fgene.2023.1142968

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