Article
[Wilsons disease].
Vnitrni lekarstvi - 1 Jul 2013
Mareček Z, Brůha R
Abstract excerpt
Wilsons disease is an autosomal recessive genetic disorder in which copper accumulates in tissues, especially in the liver and the brain. The genetic defect affects the P type ATPase gene (ATP7B). More than 500 mutations causing Wilsons disease have been described. The most common mutation in Central Europe concerns H1069Q. The symptoms of Wilsons disease include hepatic or neurological conditions. The hepatic...
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