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J-GLOBAL ID：201002261042998070   Reference number：10A0779737

A Novel Thr56Met Mutation of the Autosomal Recessive Hypercholesterolemia Gene Associated with Hypercholesterolemia

高コレステロール血症と関連した常染色体劣性高コレステロール血症遺伝子の新規Thr56Met突然変異

Author (17)： HARADA Koji (Dep. of Atherosclerosis and Diabetes, National Cardiovascular Center.) ,  HARADA Koji (First Dep. of Internal Medicine, Nara Medical Univ.) ,  MIYAMOTO Yoshihiro (Dep. of Atherosclerosis and Diabetes, National Cardiovascular Center.) ,  MIYAMOTO Yoshihiro (Lab. of Molecular Genetics, National Cardiovascular Center.) ,  MORISAKI Hiroko (Dep. of Bioscience, National Cardiovascular Center Res. Inst.) ,  OHTA Naotaka (Lab. of Molecular Genetics, National Cardiovascular Center.) ,  YAMANAKA Itaru (Dep. of Bioscience, National Cardiovascular Center Res. Inst.) ,  KOKUBO Yoshihiro (Dep. of Preventive Cardiology, National Cardiovascular Center.) ,  MAKINO Hisashi (Dep. of Atherosclerosis and Diabetes, National Cardiovascular Center.) ,  HARADA-SHIBA Mariko (Dep. of Bioscience, National Cardiovascular Center Res. Inst.) ,  OKAYAMA Akira (The First Inst. for Health Promotion and Health Care.) ,  TOMOIKE Hitonobu (Dep. of Preventive Cardiology, National Cardiovascular Center.) ,  TOMONORI Okamura (Dep. of Preventive Cardiology, National Cardiovascular Center.) ,  SAITO Yoshihiko (First Dep. of Internal Medicine, Nara Medical Univ.) ,  YOSHIMASA Yasunao (Dep. of Atherosclerosis and Diabetes, National Cardiovascular Center.) ,  YOSHIMASA Yasunao (Lab. of Molecular Genetics, National Cardiovascular Center.) ,  MORISAKI Takayuki (Dep. of Bioscience, National Cardiovascular Center Res. Inst.)
Material： Journal of Atherosclerosis and Thrombosis (Web)  (J Atheroscler Thromb (Web))
Volume： 17  Issue： 2  Page： 131-140 (J-STAGE)  Publication year： 2010 
JST Material Number： U0153A  ISSN： 1880-3873  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *常染色体劣性高コレステロール血症 ,...

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JST classification (1)： Metabolic diseases,nutritional diseases in general.  (GD05010J)

Reference (25)：

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• 3) Goldstein JL, Brown MS: Molecular medicine. The cho-lesterol quartet. Science, 2001; 292: 1310-1312
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• 5) Punzalan FE, Sy RG, Santos RS, Cutiongco EM, Gos-iengfiao S, Fadriguilan E, George P, Laurie A: Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia. J Atheroscler Thromb, 2005; 12: 276-283

Terms in the title (4)： 高コレステロール血症 ,  常染色体劣性高コレステロール血症 ,  遺伝子 ,  突然変異