Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections. [electronic resource]
Producer: 20060814Description: 4865-70 p. digitalISSN:- 0006-4971
- Amino Acid Substitution -- immunology
- Complement C1q -- analysis
- Complement C3-C5 Convertases -- analysis
- Complement Factor B -- genetics
- Complement Factor D -- analysis
- Complement Pathway, Alternative -- genetics
- DNA Mutational Analysis
- Female
- Genetic Diseases, Inborn -- blood
- Genetic Predisposition to Disease
- Homozygote
- Humans
- Infant
- Male
- Meningococcal Infections -- blood
- Neisseria meningitidis -- immunology
- Point Mutation -- immunology
- Shock, Septic -- blood
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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