TY  - GEN
AU  - Sprong,Tom
AU  - Roos,Dirk
AU  - Weemaes,Corry
AU  - Neeleman,Chris
AU  - Geesing,Christel L M
AU  - Mollnes,Tom Eirik
AU  - van Deuren,Marcel
TI  - 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
SN  - 0006-4971
PY  - 2006///0814
KW  - Amino Acid Substitution
KW  - immunology
KW  - Complement C1q
KW  - analysis
KW  - Complement C3-C5 Convertases
KW  - Complement Factor B
KW  - genetics
KW  - Complement Factor D
KW  - Complement Pathway, Alternative
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Diseases, Inborn
KW  - blood
KW  - Genetic Predisposition to Disease
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Meningococcal Infections
KW  - Neisseria meningitidis
KW  - Point Mutation
KW  - Shock, Septic
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1182/blood-2005-07-2820
ER  -