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Article

High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene.

Human molecular genetics - 1 Dec 1992

Lipscombe R J, Sumiya M, Hill A V, Lau Y L, Levinsky R J, Summerfield J A, Turner M W

Abstract excerpt

We have previously identified, in three British families having an index child with frequent infections, a point mutation (GGC-->GAC) in codon 54 of exon 1 of the gene for the human lectin mannose binding protein (MBP). This was associated with low serum levels of this complement activating protein and would be anticipated to impair opsonization of mannose rich microorganisms. We now report a second point...

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Identifiers

PMID: 1304173
DOI: 10.1093/hmg/1.9.709

Genes

MBP
GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene.PMID 1304173Read ↗

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