Article
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.
Human mutation - 1 Jan 2026
Steiner Mrázová Lenka, Vrbacká Alena, Majer Filip, Stránecký Viktor, Nosková Lenka, Záhoráková Daniela, Májovská Jitka, Bitar Ibrahim, Klempíř Jiří, Šaligová Jana, Majlingová Stella, Giertlová Mária, Drenčáková Petra, Harvanová Denisa, Solařová Pavla, Brůha Radan, Dušek Petr, Kmoch Stanislav, Sikora Jakub, Jedličková Ivana
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by bi-allelic pathogenic variants in the ATPase copper transporting beta gene (ATP7B). Results of standard genetic diagnostics remain inconclusive in 3%-20% of WD patients in part due to problematic assessment of variants of unknown or conflicting pathogenicity (synonymous variants included). Correct interpretation of potential...
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