Article
The molecular basis of hereditary complement factor I deficiency.
The Journal of clinical investigation - 15 Feb 1996
Vyse T J, Morley B J, Bartok I, Theodoridis E L, Davies K A, Webster A D, Walport M J
Abstract excerpt
The molecular basis of hereditary complement factor I deficiency is described in two pedigrees. In one pedigree, there were two factor I-deficient siblings, one of whom was asymptomatic and the other suffered from recurrent pyogenic infections. Their factor I mRNA was analyzed by reverse transcri...
Topics
- Alleles
- Base Sequence
- Blood Coagulation Disorders
- Child
- Complement Factor I
- DNA Primers
- DNA, Complementary
- Female
- Humans
- Infant
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Structure-Activity Relationship