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Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants

Objective: Wilson’s disease (WD) is a rare autosomal recessive genetic liver disorder with hepatic, neurological, or psychiatric manifestations between 1st to 5th decades. WD is caused by homozygous or compound heterozygous pathogenic variants in the ATP7B gene. In this study, we aimed to contribute...

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Principais autores: Abdullatif Bakır, Vehap Topçu, Büşranur Çavdarlı
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing House 2024-04-01
coleção:Gazi Medical Journal
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Acesso em linha:https://gazimedj.com/articles/wilson-disease-in-a-turkish-population-molecular-insights-into-an-old-disease-with-reported-and-novel-variants/doi/gmj.2023.3795
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