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浏览/检索结果: 共3条，第1-3条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation. 期刊论文 Journal of human genetics, 2019 作者:  Chen Jing;  Ma Na;  Zhao Xiaomeng;  Li Wen;  Zhang Qianjun 收藏  |  浏览/下载：6/0  |  提交时间：2019/12/13 Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis 期刊论文 MOLECULAR PAIN, 2018, 卷号: 14 作者:  Geng, Xingzhu;  Liu, Yanshan;  Ren, XiuZhi;  Guan, Yun;  Wang, Yanzhou 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/11 Congenital insensitivity to pain with anhidrosis  NTRK1  gross deletion  deep intronic mutation   Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis 期刊论文 2018, 卷号: 14, 页码: 1744806918781140 作者:  Geng, Xingzhu;  Liu, Yanshan;  Ren, XiuZhi;  Guan, Yun;  Wang, Yanzhou 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03 Congenital insensitivity to pain with anhidrosis  NTRK1  gross deletion  deep intronic mutation