A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis.

doi:10.1016/s0022-510x(98)00015-x

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Article

A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis.

Journal of the neurological sciences - 1 Jan 1998

Yazaki M, Yoshida K, Nakamura A, Furihata K, Yonekawa M, Okabe T, Yamashita N, Ohta M, Ikeda S

Abstract excerpt

Hereditary ceruloplasmin deficiency with hemosiderosis (aceruloplasminemia) is a newly recognized autosomal recessive disorder of copper-iron metabolism due to mutations in the ceruloplasmin (Cp) gene. We report here a novel mutation in the Cp gene in a 54-year-old Japanese woman with this diseas...

Topics

Alternative Splicing
Ceruloplasmin
Female
Hemosiderosis
Humans
Middle Aged
Mutation
Pedigree
Sequence Analysis, DNA

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