Article
Complement component C6 and C7 haplotypes associated with deficiencies of C6.
Annals of human genetics - 1 Apr 1995
Fernie B A, Orren A, Würzner R, Jones A M, Potter P C, Lachmann P J, Hobart M J
Abstract excerpt
Both complete C6-deficiency (C6*Q0) and subtotal C6-deficiency (C6*SD) have been described as simple recessive traits and C6*SD has been described in combination with subtotal deficiency of the C7 coded at an adjacent locus. The trace of C6 protein found in both C6*SD traits is phenotypically ind...
Topics
- Alleles
- Complement C6
- Complement C7
- Female
- Genetic Markers
- Genotype
- Haplotypes
- Humans
- Male
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length
