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J-GLOBAL ID：200902160752336406   Reference number：00A0422996

日本人特発性ヘモクロマトーシスの1例 HFE遺伝子変異の検索と本邦報告例HLAの文献的検討

Author (9)： FUJITA JUN (日本鋼管病院) ,  INAGAKI YASUTAKA (日本鋼管病院) ,  YONEI YOSHIKAZU (日本鋼管病院) ,  OTSUKA SEIJI (日本鋼管病院) ,  NAKAZAWA ATSUSHI (日本鋼管病院) ,  TSUKADA NOBUHIRO (日本鋼管病院) ,  SUZUKI OSAMU (日本鋼管病院) ,  KIRYU YASUYOSHI (日本鋼管病院) ,  MIZUNO YOSHIO (日本鋼管病院)
Material： 日本消化器病学会雑誌  (Journal of Japanese Society of Gastroenterology)
Volume： 97  Issue： 4  Page： 472-477  Publication year： Apr. 05, 2000 
JST Material Number： F0892A  ISSN： 0446-6586  CODEN： NIPAA  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： human ,...
Semi thesaurus term： *variation(biology) ,...

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JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Reference (10)：

• 1) Simon M, Bourel M, Genetet B, et al : Idiopathic hemochromatosis : Demonstration of recessive transmission and early detection by family HLA typing. N Eng J Med 1977,297:1017-1021
• 2) Feder JN, Gnirke A, Thomas W, et al : A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis . Nature Genet 1996,13:399-408
• 3) Feder JN, Tsuchihashi Z, Irrinki A, et al : The hemochromatosis founder mutation in HLA-H disrupts beta 2-microglobulin interaction and cell surface expression. J Biol Chem 1997,272:14025-14028
• 4) Feder JN, Penny DM, Irrinki A, et al : The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998,95:1472-1477
• 5) Jazwinska EC, Cullen LM, Busfield F, et al : Hemochromatosis and HLA-H. Nat Genet 1996,14:249-251

Terms in the title (8)： 日本人 ,  特発性ヘモクロマトーシス ,  HFE遺伝子 ,  変異 ,  検索 ,  報告 ,  HLA ,  文献