Article
Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency.
Lancet (London, England) - 7 Oct 1995
Garred P, Madsen H O, Hofmann B, Svejgaard A
Abstract excerpt
A low plasma concentration of mannan-binding protein (MBP) impairs opsonisation and phagocytosis. Three different mutations in the MBP gene have a dominant effect on MBP concentration. We investigated the frequency of the abnormal MBP alleles in 228 unrelated patients suspected of various non-HIV-related immunodeficiencies. The frequency of heterozygotes for the abnormal alleles was not different from that in the...
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