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...
Topics
- Alleles
- Carrier Proteins
- DNA
- Exons
- Genotype
- Humans
- Immunologic Deficiency Syndromes
- Infant, Newborn
- Mannose-Binding Lectins
- Molecular Sequence Data
- Mutation
- Nucleic Acid Probes
