descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 1990 English Publisher:S. Karger AGJournal:Human Heredity, volume 40, pages 58-60 (issn: 0001-5652, eissn: 1423-0062,

Authors: Takaaki Shinomiya; Ikuro Maruyama; Satoshi Takenaga; Hiroaki Nishimukai; Hajime Kitamura; Kenji Mizutani;

doi: 10.1159/000153906

pmid: 2312129

A New Complement Factor B Variant (BF S075) in Japanese

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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.

Related Organizations

Kagoshima University
Japan
Ehime University
Japan

Keywords

Male, Enzyme Precursors, Japan, Urticaria, Genetic Variation, Humans, Intracranial Embolism and Thrombosis, Complement Factor B, Pedigree

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