Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency.

doi:10.1016/s0140-6736(95)91559-1

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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...

Topics

Alleles
Carrier Proteins
Child, Preschool
Collectins
Female
Gene Frequency
Homozygote
Humans
Immunologic Deficiency Syndromes
Infant
Male

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