Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
Author:
Funder
Bergens Forskningsstiftelse
National Natural Science Foundation of China
Zhejiang University
Publisher
Elsevier BV
Subject
Molecular Medicine,Pathology and Forensic Medicine
Reference27 articles.
1. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions;Petrukhin;Hum Mol Genet,1994
2. Wilson disease;Członkowska;Nat Rev Dis Primers,2018
3. Wilson’s disease in China;Xie;Neurosci Bull,2017
4. Chinese clinical practice guidelines for Wilson′s disease 2021;Chin J Neurol,2021
5. Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease;Wang;Liver Int,2018
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