| Literature DB >> 436329 |
C Q Edwards, D M Williams, G E Cartwright.
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.Entities:
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Year: 1979 PMID: 436329 DOI: 10.1111/j.1399-0004.1979.tb01740.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438