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ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.

Fetal and pediatric pathology - 1 Dec 2023

Gorukmez Orhan, Özgür Taner, Gorukmez Ozlem, Topak Ali

Abstract excerpt

Background: Wilson's disease (WD) is a copper metabolism disorder caused by ATP7B gene mutations and shows an autosomal recessive pattern of inheritance. We aimed to contribute to the mutation profile of ATP7B and show demographic and phenotypic differences in this study. Materials and methods: The clinical and demographic characteristics of patients who underwent ATP7B gene sequence analysis using...

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PMID: 37737146
DOI: 10.1080/15513815.2023.2260005

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