Article
Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.
Blood - 15 Jul 1997
Cazzola M, Bergamaschi G, Tonon L, Arbustini E, Grasso M, Vercesi E, Barosi G, Bianchi P E, Cairo G, Arosio P
Abstract excerpt
Recent reports have described families in whom a combination of elevated serum ferritin not related to iron overload and congenital nuclear cataract is transmitted as an autosomal dominant trait. We have studied the molecular pathogenesis of hyperferritinemia in two families showing different phenotypic expression of this new genetic disorder. Serum ferritin levels ranged from 950 to 1,890 microg/L in affected...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.