Article
Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency.
Human genetics - 1 Jun 1998
Kira R, Ihara K, Takada H, Gondo K, Hara T
Abstract excerpt
Deficiency of the ninth component of human complement (C9) is the most common complement deficiency in Japan but is rare in other countries. We studied the molecular basis of C9 deficiency in four Japanese C9-deficient patients who had suffered from meningococcal meningitis. Direct sequencing of amplified C9 cDNA and DNA revealed a nonsense substitution (CGA-->TGA) at codon 95 in exon 4 in the four C9-deficient...
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