Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype–Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson’s Disease

Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype–Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson’s Disease

<b>Background/Objectives:</b> Wilson’s disease (WD) (OMIM 277900) or hepatolenticular degeneration is an autosomal recessive disorder caused by impaired copper excretion with subsequent accumulation in the liver, brain, and other tissues of the body. The defects in copper metabolism are...

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Main Authors: Mikhail Garbuz, Elena Ovchinnikova, Anna Ovchinnikova, Valeriya Vinokurova, Yulya Aristarkhova, Olga Kuziakova, Mariya Mashurova, Vadim Kumeiko
Format: Article
Language:English
Published: MDPI AG 2024-12-01
Series:Biomedicines
Subjects:
Wilson’s disease (WD)
molecular genetic diagnostics
Online Access:https://www.mdpi.com/2227-9059/12/12/2833
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