The properdin factor B variant(BF S045)first detected in the Japanese population.

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  • KIDO Akira
    Department of Legal Medicine, Yamanashi Medical University
  • KOMATSU Noni
    Department of Legal Medicine, Yamanashi Medical University
  • KIMURA Yukiko
    Department of Legal Medicine, Yamanashi Medical University
  • OYA Masakazu
    Department of Legal Medicine, Yamanashi Medical University

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Other Title
  • 日本人において初めて発見された BF 型変異型(BF SO45)

Abstract

The rare properdin factor B variant type (BF SO45) was first detected in the Japanese population using high voltage agarose gel electrophoresis and immuno-fixation. The propositus was a 75-year-old man living in Yamanashi Prefecture. The family study confirmed the genetic transmission of the BF*SO45 allele. BF*SO45 is the fifth rare BF variant allele found in Japanese.

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