These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Detection of C282Y and H63D in the HFE gene.
    Author: Pointon JJ, Merryweather-Clarke AT, Carella M, Robson KJ.
    Journal: Genet Test; 2000; 4(2):115-20. PubMed ID: 10953949.
    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.
    [Abstract] [Full Text] [Related] [New Search]