Article
Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.
Journal of immunology (Baltimore, Md. : 1950) - 15 May 1995
Wang X, Fleischer D T, Whitehead W T, Haviland D L, Rosenfeld S I, Leddy J P, Snyderman R, Wetsel R A
Abstract excerpt
Hereditary C5 deficiency has been reported in several families of different ethnic backgrounds and from different geographic regions, but the molecular genetic defect causing C5 deficiency has not been delineated in any of them. To examine the molecular basis of C5 deficiency in the African-Ameri...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Black People
- Complement C5
- Exons
- Humans
- Immunologic Deficiency Syndromes
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Black or African American