Article

Phenotypic and Genetic Characterization of children with Wilson Disease from Northeast China

2023-05-19

Abstract excerpt

<title>Abstract</title><p>Background Wilson's disease (WD) is an autosomal recessive genetic disease caused by ATP7B gene mutations and characterized by copper metabolism disorders. Objective This study aimed to highlight the phenotypic and genetic characteristics of children with WD in Northeast China. Methods We retrospectively analyzed clinical data and gene sequencing results of 65 children with WD from Januar...

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Literature Corpus work: 291e6e51-d027-5eaf-8eb3-5785c2046e8b
DOI: 10.21203/rs.3.rs-2858430/v1

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