Art

J-GLOBAL ID：202002262459382111   Reference number：20A2649519

Congenital fibrinogen disorder with a compound heterozygote possessing two novel FGB mutations, one qualitative and the other quantitative

2つの新規FGB変異を持つ複合ヘテロ接合体を伴う先天性フィブリノーゲン障害,1つの定性的および他の定量的【JST・京大機械翻訳】

Author (8)： Yoda Masahiro (Department of Clinical Laboratory Investigation, Graduate School of Medicine, Shinshu University, Matsumoto, Japan) ,  Kaido Takahiro (Department of Clinical Laboratory Investigation, Graduate School of Medicine, Shinshu University, Matsumoto, Japan) ,  Taira Chiaki (Department of Biomedical Laboratory Sciences, School of Health Sciences, Shinshu University, Matsumoto, Japan) ,  Higuchi Yumiko (Department of Clinical Laboratory Investigation, Graduate School of Medicine, Shinshu University, Matsumoto, Japan) ,  Higuchi Yumiko (Department of Biomedical Laboratory Sciences, School of Health Sciences, Shinshu University, Matsumoto, Japan) ,  Arai Shinpei (Department of Clinical Laboratory Sciences, School of Health Sciences, Shinshu University, Matsumoto, Japan) ,  Okumura Nobuo (Department of Clinical Laboratory Investigation, Graduate School of Medicine, Shinshu University, Matsumoto, Japan) ,  Okumura Nobuo (Department of Biomedical Laboratory Sciences, School of Health Sciences, Shinshu University, Matsumoto, Japan)
Material： Thrombosis Research  (Thromb Res)
Volume： 196  Page： 152-158  Publication year： 2020 
JST Material Number： B0585B  ISSN： 0049-3848  CODEN： THBRAA  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Congenital fibrinogen disorder...

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Thesaurus term： *heterojunction ,  aggregation ,  plasma(blood) ,  peptide ,  DNA ,  mRNA ,  antigen ,  fibrin ,  *fibrinogen ,  mutation ,  allele ,  CHO cell ,  Western blotting ,  genetic variation
Semi thesaurus term： DNA配列 , 【Automatic Indexing@JST】

Author keywords (5)： Hypodysfibrinogenemia ,  Splicing abnormality ,  FGB ,  Nonsense-mediated mRNA decay ,  Fibrin polymerization

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Genetic variation  (EC01030Y)

Terms in the title (5)： 変異 ,  複合ヘテロ接合体 ,  フィブリノーゲン ,  障害 ,  定量