Article
A new complement factor B variant (BF S075) in Japanese.
Human heredity - 1 Jan 1990
Nishimukai H, Maruyama I, Takenaga S, Kitamura H, Mizutani K, Shinomiya T
Abstract excerpt
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.
Topics
- Complement Factor B
- Enzyme Precursors
- Genetic Variation
- Humans
- Intracranial Embolism and Thrombosis
- Japan
- Male
- Pedigree
- Urticaria