Article
A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese.
Journal of immunology (Baltimore, Md. : 1950) - 1 Feb 1998
Horiuchi T, Nishizaka H, Kojima T, Sawabe T, Niho Y, Schneider P M, Inaba S, Sakai K, Hayashi K, Hashimura C, Fukumori Y
Abstract excerpt
Deficiency of the ninth component of complement (C9D) is one of the most common genetic abnormalities in Japan, with an incidence of one homozygote in 1000. Although C9D individuals are usually healthy, it has been shown that they have an significantly increased risk of developing meningococcal meningitis. In the present study we report the molecular bases for C9D in 10 unrelated Japanese subjects. As a screening...
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