Art

J-GLOBAL ID：201802260582048425   Reference number：18A1782837

Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins

先天性凝固因子X欠乏症:5症例の遺伝子解析と変異因子X蛋白質の機能的特性化【JST・京大機械翻訳】

Author (8)： Nagaya Satomi (Asanogawa General Hospital, Kanazawa, Ishikawa, Japan) ,  Nagaya Satomi (Department of Clinical Laboratory Science, Kanazawa University Graduate School of Medical Science, Kanazawa, Ishikawa, Japan) ,  Akiyama Masashi (Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan) ,  Murakami Morika (Department of Clinical Laboratory Science, Kanazawa University Graduate School of Medical Science, Kanazawa, Ishikawa, Japan) ,  Sekiya Akiko (Department of Clinical Laboratory Science, Kanazawa University Graduate School of Medical Science, Kanazawa, Ishikawa, Japan) ,  Asakura Hidesaku (Department of Hematology, Kanazawa University Hospital, Kanazawa, Ishikawa, Japan) ,  Morishita Eriko (Department of Clinical Laboratory Science, Kanazawa University Graduate School of Medical Science, Kanazawa, Ishikawa, Japan) ,  Morishita Eriko (Department of Hematology, Kanazawa University Hospital, Kanazawa, Ishikawa, Japan)
Material： Haemophilia
Volume： 24  Issue： 5  Page： 774-785  Publication year： 2018 
JST Material Number： W1809A  ISSN： 1351-8216  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Congenital factor X (FX) defic...

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Thesaurus term： heterojunction ,  aggregation ,  *gene ,  *Proteins ,  Mutation ,  secretion (physiology) ,  cultured cell ,  recessive ,  *characterization ,  autosome ,  wild type ,  Amino Acid Substitution ,  *gene analysis ,  *Genetic Variation
Semi thesaurus term： *variation(biology) , 【Automatic Indexing@JST】

Author keywords (6)： factor X deficiency ,  functional defect ,  genetic analysis ,  intracellular degradation ,  misfolding ,  missense mutation

JST classification (1)： Molecular genetics in general  (EC02010J)

Terms in the title (8)： 凝固因子 ,  欠乏症 ,  症例 ,  遺伝子解析 ,  変異 ,  因子 ,  X蛋白質 ,  特性化