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机译:在体外和硅基虫突变中的体外和硅分析中的麦克风突变分析为粘膜脂肪酶II和IIIα/β的分子碱提供了新的见解
Department of Osteology and BiomechanicsUniversity Medical Center Hamburg‐EppendorfHamburg Germany;
Department of GeneticsFederal University of Rio Grande do SulPorto Alegre Brazil;
Department of Osteology and BiomechanicsUniversity Medical Center Hamburg‐EppendorfHamburg Germany;
Institute of Human GeneticsUniversity Medical Center Hamburg‐EppendorfHamburg Germany;
Department of Pediatric GeneticsIstanbul University Cerrahpasa Medicine SchoolIstanbul Turkey;
The Hamburg Centre for Ultrafast Imaging and Department of Chemistry Institute for Biochemistry;
Department of GeneticsFederal University of Rio Grande do SulPorto Alegre Brazil;
Department of Pediatric GeneticsIstanbul University Cerrahpasa Medicine SchoolIstanbul Turkey;
Department of Osteology and BiomechanicsUniversity Medical Center Hamburg‐EppendorfHamburg Germany;
catalytic activity; GlcNAc‐1‐phosphotransferase; GNPTAB; lysosomal storage disorder; site‐1 protease; stealth domains;
机译:在体外和硅基虫突变中的体外和硅分析中的麦克风突变分析为粘膜脂肪酶II和IIIα/β的分子碱提供了新的见解
机译:GNPTAB c.2404C?>?T无意义突变在粘膜脂肪变性IIIα/β患者中的病例报告
机译:解决一例GNPTAB基因中的等位基因缺失的案例:对粘液脂血症III型alpha / beta的分子诊断的意义
机译:主要血小板整联蛋白α-IIb-β-3(GPIIb-IIIa复合物)的结构和功能:突变对配体结合和细胞信号传导的影响。
机译:复合杂合子GNPTAB突变在两个中国家庭中引起粘液脂溢II或III alpha / beta
机译:在体外和硅基畸形突变中结合在体外和硅藻分析中,在粘膜脂肪酶II和IIIα/β的分子碱基中提供了新的见解