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• W2002804758 abstract "We describe a patient with type I hereditary angioedema presenting recurrent episodes of skin swelling and abdominal pain. Laboratory examination showed reduced levels of CH50 and C4 with a normal C3 level. The C1 inhibitor was decreased to 7.0 mg/dl (normal, 10-25 mg/dl) with a remarkably reduced activity (<25%; normal, 80-125%). DNA analysis of the C1 inhibitor gene revealed a novel point mutation at the 3' acceptor mRNA splice site of the intron 5 (G-->A at nucleotide 8722). This mutation may abolish the correct splicing of the intron 5 and create unstable mRNA." @default.
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• W2002804758 date "2004-01-01" @default.
• W2002804758 modified "2023-10-16" @default.
• W2002804758 title "A Novel RNA Splice Site Mutation in the C1 Inhibitor Gene of a Patient with Type I Hereditary Angioedema" @default.
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• W2002804758 doi "https://doi.org/10.2169/internalmedicine.43.253" @default.
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