Wilson`s disease (hepatolenticular degeneration) is an autosomal recessive dis or der of copper transport. It is characterized by the accumulation of copper in the liver and subsequently other organs, mainly the central nervous system and the kidneys because of a deficiency of the copper-binding protein ceruloplasmin. The gene for Wilson`s disease has been mapped to chromosome 13 at the q14 region. The approximate homozygote prevalence of 1 in 30,000 (13,16).
Scripta Scientifica Medica 2007; 39(2):143-145
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