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Article

A Novel Mutation of ATP7B Gene in a Case of Wilson Disease.

Medicina (Kaunas, Lithuania) - 29 Jan 2021

Kahraman Cigdem Yuce, Islek Ali, Tatar Abdulgani, Özdemir Özlem, Mardinglu Adil, Turkez Hasan

Abstract excerpt

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by...

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Identifiers

PMID: 33573009
DOI: 10.3390/medicina57020123
PMCID: PMC7912016

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Source receipt: pubmed, retrieved 7 Sept 2026.

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