| Literature DB >> 10953949 |
J J Pointon1, A T Merryweather-Clarke, M Carella, K J Robson.
Abstract
The gene for hemochromatosis was identified in 1996 and two mutations were found. Homozygosity for one of these, C282Y, is associated with hemochromatosis in a high percentage of patients. Genetic analysis of patient DNA is, therefore, a very useful tool to aid and confirm diagnosis and to screen asymptomatic relatives of patients to identify those at risk of developing this common, easily treated disease.Entities:
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Year: 2000 PMID： 10953949 DOI： 10.1089/10906570050114803
Source DB: PubMed Journal: Genet Test ISSN： 1090-6576