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MutationsinthespasticparaplegiageneSPG11,encodingspatacsin,causeanautosomal-recessivediseasetrait;however,thepreciseknowledgeabout...
摘要目的构建免疫球蛋白结合分子金黄色葡萄球菌蛋白A(SPA)和链球菌蛋白G(SPG)单结构域随机组合噬菌体展示文库,为研究其分子功能与结构的关系奠定基础。方法PCR扩增制备SPA...
SPG4,SPG3AandSPG31arethethreeleadingcausesofautosomaldominant(AD)HSPs.Atotalof20unrelatedAD-HSPfamilieswererecruitedforclinic...
SPG4,SPG3AandSPG31arethethreeleadingcausesofautosomaldominant(AD)HSPs.MethodsAtotalof20unrelatedAD-HSPfamilieswererecruitedf...
BackgroundMutationsintheSPG4gene(spastin)andintheSPG3Agene(atlastin)accountforthemajorityof`pure'autosomaldominantformofhereditaryspasticp...
EEAKAQSSQVTSPG-EASQTGRRILDFDLNELPAIELEEA---GIAESVICM--Ppa020870m---PQSSQAPSPGEASQNAGRKVLNFDLNELPATEFEEGTD---QYGAAGYATSS--MdP0000271744EQLQXQLQAHSS...
BackgroundMutationsinSPG4causethemostcommonformofautosomaldominanthereditaryspasticparaplegia,aneurodegenerativediseasecharacterizedbyweakness...
TheSPG20proteinspartinlocalizestolipiddropletsandendosomes,anditinteractswithtailinteractingprotein47(TIP47)aswellastheubiquit...
ThespectrumofKIAA0196variants,andcharacterizationofamurineknockout:implicationsforthemutationalmechanisminhereditaryspasticparaplegiatypeSPG8...
BiomedResearchInternationalBIOMEDRESINT最新影响因子:3.411期刊ISSN:2314-6133CiteScore:2.55出版周期:是否OA:YES出版年份:0期刊官方网址:http:/...