Article
A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein.
Immunogenetics - 1 Jan 1994
Madsen H O, Garred P, Kurtzhals J A, Lamm L U, Ryder L P, Thiel S, Svejgaard A
Abstract excerpt
Human mannan-binding protein (MBP) is a serum lectin participating in the innate immune defence. Low MBP concentrations are explained by the dominant action of a point mutation at codon 54 of the MBP gene in Eskimos, partially in Caucasians, but not in Africans. A previously described point mutation at codon 57 was very frequent (0.23) in East Africans, low in Caucasians (0.02), and absent in Eskimos. The African...
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