Article
Gene frequency and partial protein characterization of an allelic variant of mannan binding protein associated with low serum concentrations.
Clinical and experimental immunology - 1 Dec 1992
Garred P, Thiel S, Madsen H O, Ryder L P, Jensenius J C, Svejgaard A
Abstract excerpt
Low plasma concentration of mannan binding protein (MBP) has been shown to be the basis for a common opsonic deficiency and suggested to be caused by a single nucleotide substitution at base 230 of exon 1 in the MBP gene. This substitution causes a replacement of glycine (codon GGC) with aspartic...
Topics
- Adult
- Alleles
- Base Sequence
- Carrier Proteins
- Collectins
- Female
- Gene Frequency
- Genetic Variation
- Genotype
- Heterozygote
- Homozygote
- Humans
