Article
[Hereditary haemochromatosis: novel genes, novel diseases and hepcidin].
Nederlands tijdschrift voor geneeskunde - 19 May 2007
Bergmans J P H, Kemna E H J M, Janssen M C H, Jacobs E M G, Stalenhoef A F H, Marx J J M, Swinkels D W
Abstract excerpt
Since the discovery of the HFE gene of hereditary haemochromatosis in 1996 several new genetic defects have been identified, enabling explanation of the cause and variety of this disease. To date, at least 5 major types of hereditary haemochromatosis have been recognised. All these genes encode for proteins that are involved in metabolic pathways relevant to hepcidin synthesis in the liver. Hepcidin is a small...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.