Article
Genetic bases of human complement C7 deficiency.
Journal of immunology (Baltimore, Md. : 1950) - 1 Nov 1996
Nishizaka H, Horiuchi T, Zhu Z B, Fukumori Y, Volanakis J E
Abstract excerpt
Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis. We report in this work the molecular bases of C7D in two unrelated Japanese males. We used exon-specific PCR/single-strand conformation polymorphism analysis as a screening step for mutations. Subsequent direct sequencing of the target exons identified homozygous...
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