Identification of missense mutation (G365R) of the Butyrylcholinesterase (BChE) gene in a Japanese patient with familial cholinesterasemia
スポンサーリンク
概要
- 論文の詳細を見る
A point mutation which caused a silent phenotype of human serumbutyrylcholinesterase (BChE) was identified in the genomic DNA of a 57-year-oldJapanese woman who visited our hospital because of pneumonia. The propositusexhibited an unusually low level of BChE activity, whereas her son and daughter hadan intermediate level. Immunologically, there was an absence of BChE protein in thepropositus's serum. DNA sequence analysis of the propositus demonstrated a pointmutation at codon 365 (GGA →CGA), resulting in a Gly→Arg substitution. A familystudy showed her son and daughter to have the same mutation.
著者
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Tsunoda Tatsuhiko
Research Center For Animal Life Science Shiga University Of Medical Science
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WATANABE Yoko
Department of Public Health, Tohoku University Graduate School of Medicine
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MAEDA Mitsuo
Department of Electrical Engineering,Kyushu University
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Maeda M
Division Of Internal Medicine The Harima Hospital Of The Ishikawajima Harima Heavy Industries Health
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Maeda Mitsuo
坂本医院
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Sakamoto Norikazu
Department of Internal Medicine, Harima Hospital of Ishikawajima-Harima Heavy Industries, Health Ins
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Maeda Tetsuo
Department of Internal Medicine, Harima Hospital of Ishikawajima-Harima Heavy Industries, Health Ins
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Hidaka Kazuo
Department of Biochemistry, Kawasaki Medical School
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Teranishi Tetsuya
Department of Internal Medicine, Harima Hospital of Ishikawajima-Harima Heavy Industries, Health Ins
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Toyoda Masanori
Department of Internal Medicine, Harima Hospital of Ishikawajima-Harima Heavy Industries, Health Ins
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Onishi Yutaka
Department of Internal Medicine, Harima Hospital of Ishikawajima-Harima Heavy Industries, Health Ins
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Kuroda Shoji
Department of Internal Medicine, Harima Hospital of Ishikawajima-Harima Heavy Industries, Health Ins
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Sakaguchi Kazuhiko
Department of Internal Medicine, Harima Hospital of Ishikawajima-Harima Heavy Industries, Health Ins
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Fujisawa Takashi
Department of Internal Medicine, Harima Hospital of Ishikawajima-Harima Heavy Industries, Health Ins
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Iuchi Iwao
Department of Medical Illustration and Designing, Kawasaki College of Allied Health Professions
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Iuchi I
Department Of Medical Illustration And Designing Kawasaki College Of Allied Health Professions
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Iuchi Iwao
Department Of Medical Illustration And Designing Kawasaki College Of Allied Health Professions
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Maeda Tetsuo
Course Of Physical Therapy School Of Health Sciences Faculty Of Medicine Kagoshima University
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Maeda Tetsuo
Department Of Hematology And Oncology Graduate School Of Medicine Osaka University
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Hidaka K
Department Of Biochemistry Kawasaki Medical School
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Hidaka Kazuo
Department Of Biochemistry Kawasaki Medical School
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Kuroda Shoji
Department Of Internal Medicine Harima Hospital Of Ishikawajima-harima Heavy Industries Health Insur
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Onishi Yutaka
Division Of Internal Medicine The Harima Hospital Of The Ishikawajima Harima Heavy Industries Health
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Tanaka T
Laboratory For Cardiovascular Diseases Center For Genomic Medicine Riken
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Toyoda Masanori
Department Of Internal Medicine Harima Hospital Of Ishikawajima-harima Heavy Industries Health Insur
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Fujisawa Takashi
Division Of Internal Medicine The Harima Hospital Of The Ishikawajima Harima Heavy Industries Health
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Sakamoto Norikazu
Department Of Internal Medicine Harima Hospital Of Ishikawajima-harima Heavy Industries Health Insur
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Teranishi Tetsuya
Division Of Diabetes Metabolism And Endocrinology Department Of Internal Medicine Kobe University Gr
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Teranishi Tetsuya
Department Of Internal Medicine Harima Hospital Of Ishikawajima-harima Heavy Industries Health Insur
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Sakaguchi Kazuhiko
Division Of Internal Medicine The Harima Hospital Of The Ishikawajima Harima Heavy Industries Health
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Watanabe Y
Department Of Biochemistry Kawasaki Medical School
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Maeda Mitsuo
Department Of Electrical Engineering Faculty Of Engineering Kyushu University
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Fujisawa Takashi
Department Of Accelerator And Medical Physics National Institute Of Radiological Sciences
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Murakami T
Hiroshima Univ.
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Watanabe Yoko
Department Of Microbiology School Of Pharmaceutical Sciences University Of Shizuoka
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Watanabe Yoko
Department Of Biochemistry Kawasaki Medical School
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Maeda Tetsuo
Department Of General Medicine Kanazawa University Hospital
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Watanabe Yoko
Department Of Anesthesiology Okayama Red Cross Hospital
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Sakaguchi Kazuhiko
Department of Industrial Chemistry, Faculty of Science and Technology, Science University of Tokyo
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