机译:在原发性甲状旁腺功能亢进症患者中鉴定出的MEN1基因的新型剪接位点突变
Division of Familial Cancer Research, National Cancer Center Research Institute, Tokyo 104-0045, Japan;
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Shinshu University School of Medicine,Matsumoto 390-8621, Japan;
Division of Familial Cancer Research, National Cancer Center Research Institute, Tokyo 104-0045, Japan;
Department of Laboratory Medicine, Shinshu University School of Medicine, Matsumoto 390-8621, Japan;
Division of Familial Cancer Research, National Cancer Center Research Institute, Tokyo 104-0045, Japan;
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Shinshu University School of Medicine,Matsumoto 390-8621, Japan,Department of Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621 Japan;
MEN1; menin; splicing; minigene; stability;
机译:在原发性甲状旁腺功能亢进症患者中鉴定出的MEN1基因的新型剪接位点突变
机译:临床,非家族性原发性甲状旁腺功能亢进的年轻患者中的MEN1,CASR和HRPT2 / CDC73基因的频繁生殖系突变。
机译:临床,非家族性原发性甲状旁腺功能亢进的年轻患者中的MEN1,CASR和HRPT2 / CDC73基因的频繁生殖系突变。
机译:具有内含性10 + 14剪接部位Tau基因突变模拟佩里综合征的胁迫
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:与家族性和散发性原发性甲状旁腺功能亢进有关的HRPT2和MEN1突变的快速突变筛选
机译:原发性甲状旁腺功能亢进患者单克隆甲状旁腺肿瘤的体细胞MEN1基因突变的频率