Article
Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections.
European journal of human genetics : EJHG - 1 Sept 1999
Neonato M G, Lu C Y, Guilloud-Bataille M, Lapouméroulie C, Nabeel-Jassim H, Dabit D, Girot R, Krishnamoorthy R, Feingold J, Besmond C, Elion J
Abstract excerpt
Mannose-binding protein (MBP) is a serum lectin that participates in the innate immune response. MBP deficiency may constitute a risk factor in the development of infections. Three MBP structural variants have been identified with a dominant effect on MBP serum concentration. Similarly, polymorphisms in the promoter of the corresponding gene (HSMBP1B) have been related to variations of MBP concentration in serum....
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