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1、山西大學(xué)2018屆碩士學(xué)位論文COMP基因突變致病的機(jī)制研究及藥物篩選作者姓名王晶指導(dǎo)教師肖涵教授學(xué)科專業(yè)生物化學(xué)與分子生物學(xué)研究方向罕見病分子機(jī)制培養(yǎng)單位生物技術(shù)研究所學(xué)習(xí)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目錄中文摘要........................................................................................................................IABSTRACT........................
3、........................................................................................III第一章文獻(xiàn)綜述.........................................................................................................11.1引言........................................................................
4、.........................................11.2多發(fā)性骨骺發(fā)育不良（MED）....................................................................11.2.1MED概述..............................................................................................11.2.2MED的臨床特征...................................
5、...............................................11.2.3MED的發(fā)病機(jī)理..................................................................................21.3軟骨寡聚物基質(zhì)蛋白（COMP）..................................................................21.3.1COMP概述.........................................
6、...................................................21.3.2COMP基因突變的研究........................................................................31.3.3COMP基因突變與MED關(guān)系.............................................................31.3.4抗氧化劑對(duì)COMP突變蛋白的影響......................................
7、............41.4本研究的目的和意義.....................................................................................4第二章COMP基因突變導(dǎo)致MED發(fā)生..................................................................52.1引言................................................................................
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