ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease
Conclusion: Our work expanded the ATP7B variant spectrum and pointed to clinical heterogeneity in ATP7B variants among patients with WD. All symptomatic patients had hepatic involvement and were clinically and/or genetically diagnosed with WD in the pediatric period. T977K, A1003V, H1069Q, E1086K, and N1270S variants were associated with hepatic failure.PMID:37737146 | DOI:10.1080/15513815.2023.2260005
Source: Fetal and Pediatric Pathology - Category: Pathology Authors: Orhan Gorukmez Taner Özgür Ozlem Gorukmez Ali Topak Source Type: research