A Novel RNA Splice Site Mutation in the C1 Inhibitor Gene of a Patient with Type I Hereditary Angioedema
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概要
- 論文の詳細を見る
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.
- 社団法人 日本内科学会の論文
- 2004-03-01
著者
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Ikeda Shu-ichi
The Third Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
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SEKIJIMA Yoshiki
the Third Department of Medicine, Shinshu University School of Medicine
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HASHIMOTO Takao
the Third Department of Medicine, Shinshu University School of Medicine
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Ikeda Shuichi
The Third Department Of Medicine Shinshu University School Of Medicine
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KAWACHI Yasuhiro
the Department of Dermatology, Institute of Clinical Medicine, University of Tsukuba
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KOSHIHARA Hiroshi
the Third Department of Medicine, Shinshu University School of Medicine
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OTSUKA Fujio
the Department of Dermatology, Institute of Clinical Medicine, University of Tsukuba
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Ikeda Shu-ichi
The Third Department Of Internal Medicine Shinshu University School Of Medicine
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Ikeda Shu-ichi
Department Of Neurology Shinshu University School Of Medicine
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Sekijima Yoshiki
The Third Department Of Medicine Shinshu University School Of Medicine
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Koshihara Hiroshi
The Third Department Of Medicine Shinshu University School Of Medicine
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Shimojima Yoshio
Third Department Of Medicine Shinshu University School Of Medicine
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Otsuka Fujio
The Department Of Dermatology Institute Of Clinical Medicine University Of Tsukuba
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Hashimoto Takao
The Third Department Of Medicine Shinshu University School Of Medicine
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Kawachi Yasuhiro
The Department Of Dermatology Institute Of Clinical Medicine University Of Tsukuba
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Ikeda Shu-ihci
Dep. Of Medicine (neurology And Rheumatology) Shinshu Univ. School Of Medicine
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Shimojima Yasuhiro
Third Department Of Medicine (neurology And Rheumatology) Shinshu University School Of Medicine
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Hashimoto Takao
Third Department Of Medicine Shinshu University School Of Medicine
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Hashimoto Takao
The Third Department Of Internal Medicine Shinshu University School Of Medicine
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Ikeda Shu-ichi
Third Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
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