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Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) 期刊论文
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY, 2018
作者:  Kong, Lei;  Wang, Dongxu;  Li, Shanshan;  Zhang, Chengsheng;  Jiang, Xiuyun
收藏  |  浏览/下载:2/0  |  提交时间:2019/12/11
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families 期刊论文
2015, 卷号: 82, 期号: 2, 页码: 125-128
作者:  Liu, Limin;  Li, Nan;  Zhao, Zhen;  Li, Wei;  Xia, Weibo
收藏  |  浏览/下载:2/0  |  提交时间:2020/01/13
X连锁迟发性脊椎骨骺发育不良SEDL基因突变的分析 期刊论文
中华医学遗传学杂志, 2014, 卷号: 31, 期号: 5, 页码: 604-607
作者:  李娟;  柴晓静;  陆莉;  朱江;  杜晓云
收藏  |  浏览/下载:5/0  |  提交时间:2016/09/13
TRAPPC4-ERK2 Interaction Activates ERK1/2, Modulates Its Nuclear Localization and Regulates Proliferation and Apoptosis of Colorectal Cancer Cells 期刊论文
PLOS ONE, 2011, 卷号: 6, 期号: 8
作者:  Zhao, Shu-Liang;  Hong, Jie;  Xie, Zuo-Quan;  Tang, Jie-Ting;  Su, Wen-Yu
收藏  |  浏览/下载:19/0  |  提交时间:2019/01/08
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (ivs4+1a > g) of sedl causes variable splicing isoforms in x-linked spondyloepiphyseal dysplasia tarda 期刊论文
European journal of human genetics, 2009, 卷号: 17, 期号: 4, 页码: 510-516
作者:  Xiong, Feng;  Gao, Jianjun;  Li, Jun;  Liu, Yun;  Feng, Guoyin
收藏  |  浏览/下载:33/0  |  提交时间:2019/05/10
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A > G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda 期刊论文
EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 卷号: 17, 期号: 4
作者:  Xiong, Feng;  Gao, Jianjun;  Li, Jun;  Liu, Yun;  Feng, Guoyin
收藏  |  浏览/下载:7/0  |  提交时间:2019/12/19
Interaction of Sedlin with chloride intracellular channel proteins 期刊论文
FEBS LETTERS, 2003, 卷号: 540, 期号: 1, 页码: 77-80
作者:  Fan, LB;  Yu, W;  Zhu, XL
收藏  |  浏览/下载:18/0  |  提交时间:2015/07/22


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