Article
The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.
Blood - 1 Jul 1999
Levy J E, Montross L K, Cohen D E, Fleming M D, Andrews N C
Abstract excerpt
Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first mutation deletes a large portion of the coding sequence, generating a null allele. The second mutation introduces a missense mutation (C282Y) into the Hfe locus, but otherwise leaves the gene intact. This mutation is identical to the disease-causing mutation in patients with hereditary hemochromatosis....
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