Article
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.
Nature genetics - 1 Mar 1995
Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, Hiyamuta S, Ikeda S, Shimizu N, Yanagisawa N
Abstract excerpt
We identified a mutation in the ceruloplasmin (Cp) gene in a Japanese family with aceruloplasminemia, some of whose members showed extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. A post-mortem study of the proband revealed excessive iron deposition mainly in the brain, liver and pancreas. The G to A transition at the splice acceptor site introduces a premature termination codon at the amino...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Ceruloplasmin
- DNA Mutational Analysis
- DNA Primers
- DNA, Complementary
- Female
- Genotype
- Hemosiderosis
- Humans