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Article

An abnormal but functionally active complement component C9 protein found in an Irish family with subtotal C9 deficiency.

Immunology - 1 Mar 2003

Orren Ann, O'Hara Ann M, Morgan B Paul, Moran Anthony P, Würzner Reinhard

Abstract excerpt

Two independently segregating C9 genetic defects have previously been reported in two siblings in an Irish family with subtotal C9 deficiency. One defect would lead to an abnormal C9 protein, with replacement of a cysteine by a glycine (C98G). The second defect is a premature stop codon at amino acid 406 which would lead to a truncated C9. However, at least one of two abnormal proteins was present in the...

Topics

Aged
Blood Bactericidal Activity
Complement C9
Complement Membrane Attack Complex
Electrophoresis, Polyacrylamide Gel
Enzyme-Linked Immunosorbent Assay
Epitope Mapping
Female
Hemolysis
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lipopolysaccharides

Male

Mutation

Source

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Identifiers

PMID: 12603605
DOI: 10.1046/j.1365-2567.2003.01587.x
PMCID: PMC1782909

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