Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane

INTRODUCTION: Wilson's disease is an autosomal recessive disorder caused by ATP7B pathogenic mutations. The hallmark of this disorder mainly consists of liver involvement, neurologic dysfunction and psychiatric features. In addition, the kidneys can also be affected by excessive copper depositi...

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Detalles Bibliográficos
Autores principales: Xu, Hongliang, Lv, Hanyu, Chen, Xin, Lian, Yajun, Xing, Guolan, Wang, Yingzi, Hu, Ruimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10481399/
https://www.ncbi.nlm.nih.gov/pubmed/37681011
http://dx.doi.org/10.3389/fneur.2023.1231605

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10481399/
https://www.ncbi.nlm.nih.gov/pubmed/37681011
http://dx.doi.org/10.3389/fneur.2023.1231605

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