comp基因突变致病的机制研究及药物筛选

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1、山西大学2018届硕士学位论文COMP基因突变致病的机制研究及药物筛选作者姓名王晶指导教师肖涵教授学科专业生物化学与分子生物学研究方向罕见病分子机制培养单位生物技术研究所学习年限2015年9月至2018年6月二〇一八年六月ThesisforMaster’sdegree,ShanxiUniversity,2018StudyonmechanismofcausativeCOMPmutationanddrugscreeningStudentNameJingWangSupervisorProf.HanXiaoMajorBiochemistryandMolecular

2、BiologySpecialtyMolecularmechanismofrarediseasesDepartmentInstituteofBiotechnologyResearchDuration2015.09-2018.06June,2018目录中文摘要........................................................................................................................IABSTRACT........................

3、........................................................................................III第一章文献综述.........................................................................................................11.1引言........................................................................

4、.........................................11.2多发性骨骺发育不良（MED）....................................................................11.2.1MED概述..............................................................................................11.2.2MED的临床特征...................................

5、...............................................11.2.3MED的发病机理..................................................................................21.3软骨寡聚物基质蛋白（COMP）..................................................................21.3.1COMP概述.........................................

6、...................................................21.3.2COMP基因突变的研究........................................................................31.3.3COMP基因突变与MED关系.............................................................31.3.4抗氧化剂对COMP突变蛋白的影响......................................

7、............41.4本研究的目的和意义.....................................................................................4第二章COMP基因突变导致MED发生..................................................................52.1引言................................................................................

8、.................................