• 医学文献
  • 知识库
  • 评价分析
  • 全部
  • 中外期刊
  • 学位
  • 会议
  • 专利
  • 成果
  • 标准
  • 法规
  • 临床诊疗知识库
  • 中医药知识库
  • 机构
  • 作者
热搜词:
换一批
论文 期刊
取消
高级检索

检索历史 清除

医学文献>>
  • 全部
  • 中外期刊
  • 学位
  • 会议
  • 专利
  • 成果
  • 标准
  • 法规
知识库 >>
  • 临床诊疗知识库
  • 中医药知识库
评价分析 >>
  • 机构
  • 作者
热搜词:
换一批

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

广告
第一作者: Huijun,Wang
第一单位: Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.
作者单位: Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China. [1] Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany. [2] Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China. [3] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. [4] Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Medical Faculty, 53127 Bonn, Germany; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty, 53127 Bonn, Germany. [5] Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany. [6] Department of Ophthalmology, Peking University First Hospital, Beijing 100034, China. [7] Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China. [8] Centre for Human Genetics, University of Marburg, 35033 Marburg, Germany. [9] Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria. [10] Pediatric Dermatology Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Milan, Italy. [11] Retina Consultants, P.C., 43 Woodland Street, Suite 100, Hartford, CT 06105, USA. [12] Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany. [13] Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India. [14] Department of Dermatology and Venereology, Geneva University Hospitals, 1205 Geneva, Switzerland. [15] Service of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland. [16] Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany. Electronic address: regina.betz@uni-bonn.de. [17] Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China. Electronic address: zhimiaolin@bjmu.edu.cn. [18]
DOI 10.1016/j.ajhg.2020.05.006
PMID 32497488
发布时间 2021-01-02
提交
  • 浏览0
American journal of human genetics

相似文献

  • 中文期刊
  • 外文期刊
  • 学位论文
  • 会议论文

加载中!

加载中!

加载中!

加载中!

特别提示:本网站仅提供医学学术资源服务,不销售任何药品和器械,有关药品和器械的销售信息,请查阅其他网站。

  • 客服热线:4000-115-888 转3 (周一至周五:8:00至17:00)

  • |
  • 客服邮箱:yiyao@wanfangdata.com.cn

  • 违法和不良信息举报电话:4000-115-888,举报邮箱:problem@wanfangdata.com.cn,举报专区

官方微信
万方医学小程序
new翻译 充值 订阅 收藏 移动端

官方微信

万方医学小程序

使用
帮助
Alternate Text
调查问卷