Article

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

2021-01-19

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. <h4>Methods: </h4> 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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Literature Corpus work: d7362bf2-35fb-5b50-b1e0-51d4560f2297
DOI: 10.21203/rs.3.rs-135373/v1

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