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Article

Estimation of the gene frequency of aceruloplasminemia in Japan

1 Aug 1999

Abstract excerpt

Aceruloplasminemia is a newly recognized autosomal recessive disorder of iron metabolism that causes neurodegeneration of the retina and basal ganglia as well as diabetes mellitus. We screened the serum ceruloplasmin concentrations of 4,990 healthy adult individuals. Subsequent sequence determination of the mutant alleles showed three mutations (5-bp insertion in exon 7, one heterozygote, one-bp deletion in exon...

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PMID: 10449129
DOI: 10.1212/wnl.53.3.617

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