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PMID: 436329 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Hereditary hypoceruloplasminemia.

Clinical genetics ·Vol. 15 ·No. 4 ·1979-04-00 ·Pages 311-6

Edwards CQ, Williams DM, Cartwright GE

Abstract

Serum ceruloplasmin values of less than 21.0 mg/100 ml in males or less than 23.0 mg/100 ml in females were observed in 14 out of 156 otherwise healthy members of a pedigree. The hypoceruloplasminemia segregated in a fashion suggesting that the affected individuals are heterozygous for a mutant gene that results in hypoceruloplasminemia. This mutant gene could be a Wilson's disease gene, but excessive copper loading was absent. It is suggested that hereditary hypoceruloplasminemia may be a benign entity distinct from Wilson's disease.

MeSH Terms
Adolescent Adult Aged Ceruloplasmin/deficiency,genetics Child Child, Preschool Copper/metabolism Female Genes Hepatolenticular Degeneration/genetics Heterozygote Humans Hypoproteinemia/genetics Male Metal Metabolism, Inborn Errors/genetics Mutation Pedigree
Chemicals
Copper Ceruloplasmin
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Edwards C Q
Williams D M
Cartwright G E
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
Published
1979-04-00
Pages
311-6
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
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