Pointon J J, Merryweather-Clarke A T, Carella M, Robson K J
MRC Molecular Haematology Unit, Institute Molecular Medicine, Headington, Oxford, UK.
Genet Test. 2000;4(2):115-20. doi: 10.1089/10906570050114803.
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.
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