TY  - GEN
AU  - Fredrikson,G N
AU  - Westberg,J
AU  - Kuijper,E J
AU  - Tijssen,C C
AU  - Sjöholm,A G
AU  - Uhlén,M
AU  - Truedsson,L
TI  - Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange
SN  - 0022-1767
PY  - 1996///1217
KW  - Amino Acid Sequence
KW  - Complement C3
KW  - metabolism
KW  - Exons
KW  - Genes
KW  - Genes, Recessive
KW  - Genetic Linkage
KW  - Humans
KW  - In Vitro Techniques
KW  - Male
KW  - Meningococcal Infections
KW  - genetics
KW  - Molecular Sequence Data
KW  - Oligopeptides
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Properdin
KW  - deficiency
KW  - Protein Binding
KW  - Sequence Analysis
KW  - X Chromosome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
ER  -