WEKO3
アイテム
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3) LDLレセプターと家族性高コレステロール血症(シンポジウム レセプターとその臨床, 第443回新潟医学会)
http://hdl.handle.net/10191/41425
http://hdl.handle.net/10191/4142592a4d3d4-2762-4575-ad53-eb354e275ae1
名前 / ファイル | ライセンス | アクション |
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2016-04-12 | |||||
タイトル | ||||||
タイトル | 3) LDLレセプターと家族性高コレステロール血症(シンポジウム レセプターとその臨床, 第443回新潟医学会) | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | 3) LDLレセプターと家族性高コレステロール血症(シンポジウム レセプターとその臨床, 第443回新潟医学会) | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | LDL receptor | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | familial hypercholesterolemia | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | coronary artery disease | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | LDLリセプター | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 家族性高コレステロール血症 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 冠動脈疾患 | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | departmental bulletin paper | |||||
その他のタイトル | ||||||
その他のタイトル | LDL Receptor and Familial Hypercholesterolemia(Receptor Diseases) | |||||
著者 |
三井田, 孝
× 三井田, 孝× 柴田, 昭 |
|||||
著者別名 | ||||||
識別子 | 137921 | |||||
識別子Scheme | WEKO | |||||
姓名 | Miida, Takashi | |||||
著者別名 | ||||||
識別子 | 137922 | |||||
識別子Scheme | WEKO | |||||
姓名 | Shibata, Akira | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Familial hypercholesterolemia (FH) is one of the most common inherited disorders both in Caucasian countries and Japan. It had been already established that the genetic defects of low density lipoprotein receptors (LDL-R) resulted in FH. Homozygous FH were classified into three phenotypes (receptor negative, receptor defective and internalization defective type) according to their binding activity to LDL and internalization ability of the complex. Their allelic mutations were also divided into four classes (Class 1: failure of synthesis of LDL-R, Class 2: failure of LDL-R transport from endoplasmic reticulum to Golgi apparatus, Class 3: failure of binding of LDL-R to LDL, Class 4: failure of clustering of coated pits). Moreover, recent studies focused attention on the structure of LDL-R gene and their function. We reviewed these investigations and related them with the clinical manifestrations of FH, especially in heterozygotes, from our data and clinical experiences. | |||||
書誌情報 |
新潟医学会雑誌 en : 新潟医学会雑誌 巻 103, 号 10, p. 801-808, 発行日 1989-10 |
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出版者 | ||||||
出版者 | 新潟医学会 | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 00290440 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00182415 | |||||
著者版フラグ | ||||||
値 | publisher |