| 彭建柳.离子通道与人类遗传病[J].,2006,6(8):59-62 |
| 离子通道与人类遗传病 |
| Ion channels and human genetic diseases |
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| DOI： |
| 中文关键词: 离子通道 遗传性疾病 |
| 英文关键词: Ion channels Genetic diseases |
| 基金项目: |
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| 中文摘要: |
| 细胞膜离子通道结构和功能正常是细胞进行生理活动的基础, 对离子通道功能具有决定性意义的特定位点的突变导
致其开放、关闭或激活、失活功能异常, 引起组织机能紊乱, 形成各种遗传性疾病。本文从水通道蛋白, 钙通道, 钠通道, 钾通道等
多种通道蛋白引起的遗传病的现象以及机理做较深入的阐述。 |
| 英文摘要: |
| The normal structure and well functioning of the ion channel of cell membrane are the bases of physiolog ical activities. The
mutation of any special situs which is essential for the ion channel would result in the abnormal functioning of its opening and closing, activatation
and inactivation, causing disorder of the tissue and many hereditary diseases. In this thesis, phenomena and mechanism of genetic diseases caused
by many channel proteins, such as aquatic, calcium, sodium channels, potassium channel proteins, are discussed elaborately . |
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