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OMIA 001071-9940 : Wilson disease in Ovis aries

In other species: cattle , dog , pig , domestic cat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 277900 (trait) , 606882 (gene)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: A disorder of copper metabolism, due to a deficiency of ceruloplasmin, which forms a complex with copper. The excess copper is deposited in the brain (causing mental retardation) or the liver (causing jaundice and cirrhosis).

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2000 Lockhart, P.J., Wilcox, S.A., Dahl, H.H.M., Mercer, J.F.B. :
Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue Biochimica et Biophysica Acta - Gene Structure & Expression 1491:229-239, 2000.
1987 Howell, J.M., Wiener, G., Gawthorne, J.M. :
The genetics of copper metabolism in animals and man :45-61, 1987.

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  • Created by Frank Nicholas on 06 Sep 2005