Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease

AIM: To discover the novel ATP7B mutations in 103 southern Chinese patients with Wilson disease (WD), and to determine the spectrum and frequency of mutations in the ATP7B gene and genotype–phenotype correlation in a large-scale sample of Chinese WD patients. METHODS: One hundred three WD patients f...

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Detalles Bibliográficos
Autores principales: Li, Mingming, Ma, Jing, Wang, Wenlong, Yang, Xu, Luo, Kaizhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411542/
https://www.ncbi.nlm.nih.gov/pubmed/34470610
http://dx.doi.org/10.1186/s12876-021-01911-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411542/
https://www.ncbi.nlm.nih.gov/pubmed/34470610
http://dx.doi.org/10.1186/s12876-021-01911-5

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