Article
Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.
Hepatology communications - 1 Jul 2022
Panzer Marlene, Viveiros André, Schaefer Benedikt, Baumgartner Nadja, Seppi Klaus, Djamshidian Atbin, Todorov Theodor, Griffiths William J H, Schott Eckart, Schuelke Markus, Eurich Dennis, Stättermayer Albert Friedrich, Bomford Adrian, Foskett Pierre, Vodopiutz Julia, Stauber Rudolf, Pertler Elke, Morell Bernhard, Tilg Herbert, Müller Thomas, Kiechl Stefan, Jimenez-Heredia Raul, Weiss Karl Heinz, Hahn Si Houn, Janecke Andreas, Ferenci Peter, Zoller Heinz
Abstract excerpt
Wilson disease (WD) is caused by biallelic pathogenic variants in adenosine triphosphatase copper-transporting beta (ATP7B); however, genetic testing identifies only one or no pathogenic ATP7B variant in a number of patients with WD. Synonymous single-nucleotide sequence variants have been recognized as pathogenic in individual families. The aim of the present study was to evaluate the prevalence and disease...
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