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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：请选择发表日期升序发表日期降序作者升序作者降序提交时间升序提交时间降序题名升序题名降序 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 Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA)  Wnt1-inducible signaling pathway protein 3 (WISP3)  Mutation   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：34/0  |  提交时间：2019/05/10 Alternative splicing  Canonical splice site  Mutation analysis  Noncanonical splice site  Splicing mechanism  Spondyloepiphyseal dysplasia tarda   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 alternative splicing  canonical splice site  mutation analysis  noncanonical splice site  splicing mechanism  spondyloepiphyseal dysplasia tarda