Article
Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters.
Internal medicine (Tokyo, Japan) - 1 Dec 2001
Matsuyama W, Nakagawa M, Takashima H, Muranaga F, Sano Y, Osame M
Abstract excerpt
We report two sisters with hereditary deficiency of the third complement component (C3) and a homozygous mutation at C3303G (Tyr1081Stop) of the gene. They developed systemic lupus erythematosus-like symptoms during adolescence. Their C3 were not detected in serum immunochemically. Their mother and a brother had half of the normal C3 levels and a heterozygous mutation in the same position. Western blot analysis...
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