Article
Mutations in the human mannose-binding protein gene: frequencies in several population groups.
European journal of human genetics : EJHG - 1 Jan 1996
Lipscombe R J, Beatty D W, Ganczakowski M, Goddard E A, Jenkins T, Lau Y L, Spurdle A B, Sumiya M, Summerfield J A, Turner M W
Abstract excerpt
Mannose-binding protein (MBP; mannan-binding protein, mannan-binding lectin) is a member of the collectin family of proteins and is thought to be important in innate immunity. We have previously shown high frequencies of two distinct mutations in codon 54 and codon 57 of exon 1 of the MBP gene in non-African and African populations, respectively. These result in low levels of the protein and an opsonic deficiency...
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