Article
A mutation in KIR3DS1 that results in truncation and lack of cell surface expression.
Immunogenetics - 1 Oct 2007
Martin Maureen P, Pascal Véronique, Yeager Meredith, Phair John, Kirk Gregory D, Hoots Keith, O'Brien Stephen J, Anderson Stephen K, Carrington Mary
Abstract excerpt
The KIR gene cluster exhibits a high degree of polymorphism in terms of gene content as well as allelic polymorphism, and data suggest that it is evolving rapidly. The KIR3DL1 locus is one of the most polymorphic loci within this cluster and is unique in that it encodes an activating receptor KIR3DS1, as well as multiple inhibitory KIR3DL1 allotypes. Because KIR3DS1 has been implicated in a number of diseases, we...
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