Article
Effect of homeostatic iron regulator protein gene mutation on Wilson's disease clinical manifestation: original data and literature review.
The International journal of neuroscience - 1 Sept 2022
Gromadzka Grażyna, Wierzbicka Diana Weronika, Przybyłkowski Adam, Litwin Tomasz
Abstract excerpt
OBJECTIVE: Wilson's disease (WD) is a hereditary disorder of copper metabolism. The metabolic pathways of copper and iron are interrelated. Our goal was to determine the frequency of the two most common mutations in the coding region of the human iron homeostatic protein gene (HFE) in Europe: C282Y (rs1800562) and H63D (rs1799945) in WD patients, as well as to analyze their relation with WD phenotypic traits....
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