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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...
Autores principales: | Li, Mingming, Ma, Jing, Wang, Wenlong, Yang, Xu, Luo, Kaizhong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
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 |
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