Article
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.
28 Mar 1995
Abstract excerpt
Ceruloplasmin is an abundant alpha 2-serum glycoprotein that contains 95% of the copper found in the plasma of vertebrate species. We report here on the identification of a genetic defect in the ceruloplasmin gene in a patient previously noted to have a total absence of circulating serum ceruloplasmin in association with late-onset retinal and basal ganglia degeneration. In this patient T2 (transverse relaxation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
