A NEW COMPLEMENT FACTOR-B VARIANT (BF-S075) IN JAPANESE

被引：1
|
作者：
NISHIMUKAI, H
MARUYAMA, I
TAKENAGA, S
KITAMURA, H
MIZUTANI, K
SHINOMIYA, T
机构：
[1] EHIME UNIV,SCH MED,DEPT SURG 1,SHIGENOBU,EHIME 79102,JAPAN
[2] KAGOSHIMA UNIV,FAC MED,DEPT INTERNAL MED 3,KAGOSHIMA 890,JAPAN
[3] CTR ADULT DIS,DEPT IMMUNOL,OSAKA 537,JAPAN
来源：
HUMAN HEREDITY | 1990年 / 40卷 / 01期
关键词：
Complement; Factor B; Rare variant;
D O I：
10.1159/000153906
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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. © 1990 S. Karger AG, Basel.
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页码：58 / 60
页数：3
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