Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms.
Matsuyama
W
W
Third Department of Internal Medicine, Kagoshima University School of Medicine, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
Nakagawa
M
M
Takashima
H
H
Muranaga
F
F
Sano
Y
Y
Osame
M
M
D019943:Amino Acid Substitution / Q000235:genetics*; D000818:Animals; D018388:Codon, Terminator / Q000235:genetics*; D003176:Complement C3 / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D006801:Humans; D007739:L Cells; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D051379:Mice; D020125:Mutation, Missense / Q000235:genetics*; D009679:Nuclear Family; D014443:Tyrosine / Q000235:genetics*
D018388:Codon, Terminator; D003176:Complement C3; D014443:Tyrosine