Art

J-GLOBAL ID：200902116726725454   Reference number：99A0450420

Germline Mutations in the Extracellular Domains of the 55kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes.

55kDaのTNF受容体(TNFR1)における生殖細胞系突然変異が優勢遺伝性自己炎症性症候群の家系を定義する

Author (9)： MCDERMOTT M F (St. Bartholomew’s and the Royal London Hospital School of Medicine and Dentistry, London, GBR) ,  AKSENTIJEVICH I (National Inst. Arthritis and Musculoskeletal and Skin Diseases, Maryland) ,  GALON J (National Inst. Arthritis and Musculoskeletal and Skin Diseases, Maryland) ,  MCDERMOTT E M (Univ. Nottingham, Nottingham, GBR) ,  KARENKO L (Helsinki Univ. Central Hospital, Helsinki, FIN) ,  MCCARTHY J (National Univ. Ireland Cork, IRL) ,  WILSON M (New Children’s Hospital, New South Wales, AUS) ,  SCHLIMGEN R (National Inst. Arthritis and Musculoskeletal and Skin Diseases, Maryland) ,  KASTNER D L (National Inst. Arthritis and Musculoskeletal and Skin Diseases, Maryland)
Material： Cell (Cambridge, Mass.)  (Cell (Camb. Mass.))
Volume： 97  Issue： 1  Page： 133-144  Publication year： Apr. 02, 1999 
JST Material Number： A0707B  ISSN： 0092-8674  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： autosome ,...
Semi thesaurus term： 周期的熱症候群

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JST classification (2)： Genetic variation  (EC01030Y) ,  Receptors on cell membrane  (EF04030C)

Substance index (1)： Phorbol 12-myristate 13-acetate

Terms in the title (7)： TNF受容体 ,  TNFR1 ,  生殖細胞系突然変異 ,  遺伝 ,  自己炎症性症候群 ,  家系 ,  定義