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  1. 0 資料タイプ別
  2. 03 紀要論文
  1. 250 大学院医歯学総合研究科(医)
  2. 20 紀要
  3. 02 新潟医学会雑誌
  4. 第103巻第10号

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/10191/41425
92a4d3d4-2762-4575-ad53-eb354e275ae1
名前 / ファイル ライセンス アクション
103(10)_801-808.pdf 103(10)_801-808.pdf (1.5 MB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
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

WEKO 137919

三井田, 孝

Search repository
柴田, 昭

× 柴田, 昭

WEKO 137920

柴田, 昭

Search repository
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
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
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