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浏览/检索结果: 共3条，第1-3条 帮助 限定条件 专题：山东大学    第一署名单位    第一作者单位    通讯作者单位     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 G (p.Ser113Arg) Variant in the Original SPG42 Family">Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family 期刊论文 HUMAN MUTATION, 2015, 卷号: 36, 期号: 2, 页码: 240-249 作者:  Mao, Fei;  Li, Zhaohui;  Zhao, Baoyue;  Lin, Pengfei;  Liu, Pingting 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/17 hereditary spastic paraplegias (HSP)  exome sequencing  SLC33A1  mutation   G (p.Ser113Arg) Variant in the Original SPG42 Family">Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family 期刊论文 Human mutation, 2015, 页码: 240-249 作者:  Mao, Fei;  Li, Zhaohui;  Zhao, Baoyue;  Lin, Pengfei;  Liu, Pingting 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/17 hereditary spastic paraplegias (HSP)  exome sequencing  SLC33A1  mutation   G) Mutation in SLC33A1 Acquires Dominant-Negative Functions and Leads to Upregulated BMP Signaling">The P.Ser113Arg(c.339T>G) Mutation in SLC33A1 Acquires Dominant-Negative Functions and Leads to Upregulated BMP Signaling 会议论文 2014全球华人遗传学大会全国第十三次医学遗传学学术会议 作者:  Fei Mao;  Zhaohui Li;  Baoyue Zhao;  Pengfei Lin;  Pingting Liu 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/31 G  ">SLC  BMP  Mutation in SLC33A1 Acquires Dominant-Negative Functions and Leads to Upregulated BMP Signaling  The P.Ser113Arg  c.339T>G