| 单基因突变所致的胰岛素抵抗综合征 |
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| 引用本文： | 江珊,贾伟平. 单基因突变所致的胰岛素抵抗综合征[J]. 中华内分泌代谢杂志, 2009, 25(1). DOI: 10.3760/cma.j.issn.1000-6699.2009.01.041 |
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| 作者姓名： | 江珊 贾伟平 |
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| 作者单位： | 上海市糖尿病临床医学中心、上海市糖尿病研究所、上海市交通大学附属第六人民医院内分泌科,200233 |
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| 基金项目： | 上海市医学领军人才培养计划 |
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| 摘 要： | 临床上存在多种由单基因突变所导致的胰岛素抵抗综合征,如胰岛素受体基因突变造成的严重胰岛素抵抗综合征,核纤层蛋白(LMNA)基因突变导致的脂肪营养不良综合征等,以下将对这些疾病的临床特点、突变基因及发病机制作一综述.
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| 关 键 词： | 胰岛素抵抗 突变 胰岛素受体基因 脂肪营养不良 |
Insulin resistance syndromes of monogenic mutations |
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| JIANG Shan,JIA Wei-ping. Insulin resistance syndromes of monogenic mutations[J]. Chinese Journal of Endocrinology and Metabolism, 2009, 25(1). DOI: 10.3760/cma.j.issn.1000-6699.2009.01.041 |
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| Authors: | JIANG Shan JIA Wei-ping |
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| Abstract: | Several insulin resistance syndromes, such as severe insulin resistance syndrome caused by mutations of insulin receptor gene and lipodystrophy caused by mutations of lamin gene, have been characterized clinically. The gene mutations, pathogenesis and clinical features of these monogenie diseases were reviewed in this article. |
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| Keywords: | Insulin resistance Mutation Insulin receptor gene Lipodystrophy |
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