Sequence variation and haplotype structure at the human HFE locus.

Abstract excerpt

The HFE locus encodes an HLA class-I-type protein important in iron regulation and segregates replacement mutations that give rise to the most common form of genetic hemochromatosis. The high frequency of one disease-associated mutation, C282Y, and the nature of this disease have led some to suggest a selective advantage for this mutation. To investigate the context in which this mutation arose and gain a better...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Gene Frequency
• Share to Haplotypes
• Share to Hemochromatosis Protein