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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 Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum 期刊论文 FRONTIERS IN GENETICS, 2019, 卷号: 10 作者:  Fang, Xiaokai;  Sun, Yonghu 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/11 whole-exome sequencing  xeroderma pigmentosum (XP)  DNA polymerase eta  (POLH) gene  novel mutation  psoriasis   Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree 期刊论文 2015, 卷号: 1, 期号: 2, 页码: 66-70 作者:  Wang Tao;  Xu Chen-Chen;  Zhou Xi-Ping;  Lee Jonathan J;  Shen Jun 收藏  |  浏览/下载：7/0  |  提交时间：2020/01/04 CS  Cockayne syndrome  ERCC5  ERCC5  Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene  Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene  NER  Nucleotide excision repair  UV  Ultraviolet  WES  Whole exome sequencing  XP  Xeroderma pigmentosum  XP-G  Xeroderma pigmentosum complementation group G  nucleotide excision repair  whole exome sequencing  xeroderma pigmentosum complementation group G   A novel POLH mutation causes XP-V disease and XP-V tumor proneness may involve imbalance of numerous DNA polymerases 期刊论文 ONCOLOGY LETTERS, 2013, 卷号: 6, 期号: 6 作者:  Guo, Jia;  Zhou, Guilan;  Zhang, Wenfeng;  Song, Yaling;  Bian, Zhuan 收藏  |  浏览/下载：1/0  |  提交时间：2019/12/05 POLH  mutation  Xeroderma pigmentosum  XP-V