Article
A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM).
The Tohoku journal of experimental medicine - 1 Jul 2000
Daimon M, Susa S, Ohizumi T, Moriai S, Kawanami T, Hirata A, Yamaguchi H, Ohnuma H, Igarashi M, Kato T
Abstract excerpt
We found a novel missense mutation in the ceruloplasmin (Cp) gene in a patient with the heteroallelic Cp gene mutation (HypoCPGM). The patient was a 72-year-old woman who came to our hospital with a 1-year history of postural tremor of the hands. The diagnosis was made based on serum Cp and copper readings which were about half the normal levels, as well as MRI tests of her brain which showed characteristics for...
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