Article
Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles.
Human molecular genetics - 1 Sept 2006
Verdu Paul, Barreiro Luis B, Patin Etienne, Gessain Antoine, Cassar Olivier, Kidd Judith R, Kidd Kenneth K, Behar Doron M, Froment Alain, Heyer Evelyne, Sica Lucas, Casanova Jean-Laurent, Abel Laurent, Quintana-Murci Lluís
Abstract excerpt
Human mannose-binding lectin (MBL) is a member of the collectin protein family that binds a broad range of microorganisms and activates the lectin-complement pathway of innate immunity. Common alleles of MBL2 disrupt the MBL protein or modulate the amount of protein produced, resulting in MBL deficiency. The clinical manifestations of MBL deficiency have been extensively studied but the actual role of this lectin...
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