A new complement factor B variant (BF S075) in Japanese.
A new slow-moving variant of the complement factor B, named BF S075, was found in a Japanese patient with cerebral thrombosis and urticaria. The variant was inherited in a codominant manner. The protein concentration and functional hemolytic activity of the complement factor B in the patient's serum were within normal limits. The BF S075 is the fourth rare BF variant found in the Japanese population.
Nishimukai
H
H
Department of Legal Medicine, School of Medicine, Ehime University, Japan.
Maruyama
I
I
Takenaga
S
S
Kitamura
H
H
Mizutani
K
K
Shinomiya
T
T
D011415:Complement Factor B / Q000235:genetics*; D004792:Enzyme Precursors / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D002542:Intracranial Embolism and Thrombosis / Q000235:genetics; D007564:Japan; D008297:Male; D010375:Pedigree; D014581:Urticaria / Q000235:genetics
D004792:Enzyme Precursors; D011415:Complement Factor B