Nishimukai H, Maruyama I, Takenaga S, Kitamura H, Mizutani K, Shinomiya T
Department of Legal Medicine, School of Medicine, Ehime University, Japan.
Hum Hered. 1990;40(1):58-60. doi: 10.1159/000153906.
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.
在一名患有脑血栓和荨麻疹的日本患者中发现了一种新的补体因子B的缓慢移动变体,命名为BF S075。该变体以共显性方式遗传。患者血清中补体因子B的蛋白质浓度和功能性溶血活性在正常范围内。BF S075是在日本人群中发现的第四种罕见的BF变体。