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浏览/检索结果: 共7条，第1-7条 帮助 限定条件 发表日期：2015     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 small indel mutation in an anthocyanin transporter causes variegated colouration of peach flowers 期刊论文 JOURNAL OF EXPERIMENTAL BOTANY, 2015, 卷号: 66, 期号: 22, 页码: 7227-7239 作者:  Cheng, Jun;  Liao, Liao;  Zhou, Hui;  Gu, Chao;  Wang, Lu 收藏  |  浏览/下载：19/0  |  提交时间：2017/04/13 Anthocyanin  chimera  GST  indel  peach  variegation   Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing 期刊论文 Biological Chemistry, 2015, 卷号: 396, 期号: 1, 页码: 27-33 作者:  Yuan, Lamei;  Wu, Song;  Xu, Hongbo;  Xiao, Jingjing;  Yang, Zhijian 收藏  |  浏览/下载：6/0  |  提交时间：2019/12/03 PHEX gene  exome sequencing  frameshift  genetic counseling  hypophosphatemic rickets   Bulk segregant analysis reveals the genetic basis of a natural trait variation in fission yeast 期刊论文 Genome biology and evolution, 2015 Hu Wen; Suo Fang; Du Li-Lin 收藏  |  浏览/下载：3/0  |  提交时间：2017/12/03 Schizosaccharomyces pombe,maltose utilization,natural variation   Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens 期刊论文 FERTILITY AND STERILITY, 2015 Yang, Xiaojian; Sun, Qipeng; Yuan, Ping; Liang, Hao; Wu, Xiao; Lai, Luhua; Zhang, Yan 收藏  |  浏览/下载：2/0  |  提交时间：2017/12/03 Congenital absence of vas deferens  CFTR  mutation  variant  CYSTIC-FIBROSIS GENE  BILATERAL ABSENCE  TRANSMEMBRANE REGULATOR  UNILATERAL ABSENCE  FEATURES  CBAVD  MEN  IDENTIFICATION  INFERTILITY  MECHANISMS   Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population 期刊论文 JOURNAL OF HUMAN GENETICS, 2015, 卷号: 60, 期号: 10, 页码: 625-630 作者:  Zhou, Yu;  Saikia, Bibhuti B.;  Jiang, Zhilin;  Zhu, Xiong;  Liu, Yuqing 收藏  |  浏览/下载：35/0  |  提交时间：2016/12/22 CILIARY PROTEIN   A novel frameshift mutation of epithelial sodium channel beta-subunit leads to Liddle syndrome in an isolated case 期刊论文 2015, 卷号: 82, 期号: 4, 页码: 611-614 作者:  Yang, Kun-Qi;  Lu, Chao-Xia;  Xiao, Yan;  Liu, Ya-Xin;  Jiang, Xiong-Jing 收藏  |  浏览/下载：6/0  |  提交时间：2020/01/13 Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis 期刊论文 2015, 卷号: 30, 期号: 10, 页码: 1357-1361 作者:  Liu, Sen;  Wu, Nan;  Liu, Jiaqi;  Ming, Xuan;  Chen, Jun 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/13 neurotrophic tyrosine kinase receptor 1 (NTRK1)  nerve growth factor beta (NGFB)  Necdin (NDN)  congenital insensitivity to pain with anhidrosis