Article
Molecular basis of opsonic defect in immunodeficient children.
Lancet (London, England) - 29 Jun 1991
Sumiya M, Super M, Tabona P, Levinsky R J, Arai T, Turner M W, Summerfield J A
Abstract excerpt
Low serum mannose-binding protein (MBP) concentrations are associated with a common opsonic defect. Sequence analysis of the MBP gene in three children with recurrent infections, the opsonic defect, and low serum MBP concentrations showed a point mutation at base 230 of exon 1 causing a change of codon 54 from GGC to GAC. The replacement of glycine with an aspartic acid residue disrupts the fifth Gly-Xaa-Yaa...
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