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机译:中国成骨不全症患者COL1A1,COL1A2和LEPRE1基因新突变的鉴定
Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, 600 Yi-Shan Rd, Shanghai, 200233, People’s Republic of China;
Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, 600 Yi-Shan Rd, Shanghai, 200233, People’s Republic of China;
Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, 600 Yi-Shan Rd, Shanghai, 200233, People’s Republic of China;
Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, 600 Yi-Shan Rd, Shang;
Osteogenesis imperfecta; Collagen type I; LEPRE1; Mutation;
机译:中国成骨不全症患者COL1A1,COL1A2和LEPRE1基因新突变的鉴定
机译:61例中国成骨不全症患者的临床特征及COL1A1和COL1A2新突变的鉴定
机译:COL1A1 / COL1A2筛选的突变光谱通过高分辨率的骨质发生患者的高分辨率熔化分析
机译:骨质发生患者患者特异性模型的骨折风险的测定
机译:人类遗传疾病的多种机制:COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
机译:通过PCR扩增和构象敏感的凝胶电泳扫描对COL1A1和COL1A2基因进行分析在15例I型成骨不全患者中仅发现COL1A1突变:鉴定无效等位基因突变的常见序列。
机译:通过PCR扩增对COL1A1和COL1A2基因进行分析,并通过构象敏感的凝胶电泳进行扫描,在15例I型成骨不全患者中仅发现COL1A1突变:鉴定无效等位基因突变的常见序列。