Article
Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel.
Gene - 15 Dec 2023
Orenstein Naama, Glassberg Yael Mozer, Shkalim-Zemer Vered, Basel-Salmon Lina, Averbuch Noa Shefer, Lagovsky Irina, Mark Anat Guz, Amir Achiya Z, Bazak Lily, Cooper Shiri, Goldberg Yael
Abstract excerpt
BACKGROUND: Wilson disease is caused by pathogenic variants in the ATP7B gene which encodes a copper-transporting ATPase. AIMS: Describe a common founder pathogenic variant among Bukharan Jews and to assess its prevalence, clinical features, and outcome. METHODS: The cohort consisted of patients of Bukharan Jewish descent diagnosed with Wilson disease at a tertiary pediatric medical center in 2013-2018. Clinical...
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