title: A new complement factor B variant (BF S075) in Japanese.
abstract: 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.
authors.affiliation: Department of Legal Medicine, School of Medicine, Ehime University, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nishimukai
authors.forename: I
authors.initials: I
authors.lastname: Maruyama
authors.forename: S
authors.initials: S
authors.lastname: Takenaga
authors.forename: H
authors.initials: H
authors.lastname: Kitamura
authors.forename: K
authors.initials: K
authors.lastname: Mizutani
authors.forename: T
authors.initials: T
authors.lastname: Shinomiya
mesh_terms: 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
chemical_list: D004792:Enzyme Precursors; D011415:Complement Factor B