Genetic studies discover novel coding and non‐coding mutations in patients with Wilson's disease in China

OBJECTIVES: Wilson disease (WD) is a rare autosomal recessive genetic disorder associated with various mutations in the ATP7B gene and leads to significant disability or death if untreated. Early diagnosis and proper therapy usually predict a good prognosis, especially in pre‐symptomatic WD. Genetic...

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Detalles Bibliográficos
Autores principales: Huang, Chenjun, Fang, Meng, Xiao, Xiao, Gao, Zhiyuan, Wang, Ying, Gao, Chunfang
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/PMC9169201/
https://www.ncbi.nlm.nih.gov/pubmed/35470480
http://dx.doi.org/10.1002/jcla.24459

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169201/
https://www.ncbi.nlm.nih.gov/pubmed/35470480
http://dx.doi.org/10.1002/jcla.24459

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