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

BMC gastroenterology - 1 Sept 2021

Li Mingming, Ma Jing, Wang Wenlong, Yang Xu, Luo Kaizhong

Abstract excerpt

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 from 101 unrelated families in southern China were enrolled in this study. Genomic DNA was extracted from the...

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Identifiers

PMID: 34470610
DOI: 10.1186/s12876-021-01911-5
PMCID: PMC8411542

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