Article
Gene variants encoding proteins involved in antioxidant defense system and the clinical expression of Wilson disease.
Liver international : official journal of the International Association for the Study of the Liver - 1 Jan 2015
Gromadzka Grażyna, Kruszyńska Monika, Wierzbicka Diana, Litwin Tomasz, Dzieżyc Karolina, Wierzchowska-Ciok Agata, Chabik Grzegorz, Członkowska Anna
Abstract excerpt
BACKGROUND & AIMS: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism resulting from pathogenic mutations of the ATP7B gene. The basis of phenotypic variability of the disease is not understood. The main mechanism of copper toxicity is probably related to generation of intracellular oxidative stress. To evaluate whether interindividual variability within genes encoding proteins involved...
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