Mutations inSEC24Dcause autosomal recessive osteogenesis imperfecta

成骨不全 卓越中心 医学遗传学 图书馆学 医学 遗传学 生物 政治学 病理 计算机科学 基因 法学
作者
Shahida Moosa,Brian Hon‐Yin Chung,Joanna Yuet‐ling Tung,Janine Altmüller,Holger Thiele,Peter Nürnberg,Christian Netzer,Gen Nishimura,Bernd Wollnik
出处
期刊:Clinical Genetics [Wiley]
卷期号:89 (4): 517-519 被引量:21
标识
DOI:10.1111/cge.12678
摘要

Clinical GeneticsVolume 89, Issue 4 p. 517-519 LETTER TO THE EDITOR Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta S. Moosa, S. Moosa Institute of Human Genetics, University of Cologne, Cologne, Germany Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, GermanySearch for more papers by this authorB. H.-Y. Chung, B. H.-Y. Chung Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorJ. Y.-L. Tung, J. Y.-L. Tung Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorJ. Altmüller, J. Altmüller Institute of Human Genetics, University of Cologne, Cologne, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorH. Thiele, H. Thiele Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorP. Nürnberg, P. Nürnberg Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorC. Netzer, C. Netzer Institute of Human Genetics, University of Cologne, Cologne, GermanySearch for more papers by this authorG. Nishimura, G. Nishimura Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorB. Wollnik, Corresponding Author B. Wollnik Institute of Human Genetics, University of Cologne, Cologne, Germany Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany Corresponding author: Prof. Bernd Wollnik, MD, Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany. Tel.: +49 551 39 7590; Fax: +49 551 39 9303; e-mail: bwollnik@uni-koeln.deSearch for more papers by this author S. Moosa, S. Moosa Institute of Human Genetics, University of Cologne, Cologne, Germany Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, GermanySearch for more papers by this authorB. H.-Y. Chung, B. H.-Y. Chung Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorJ. Y.-L. Tung, J. Y.-L. Tung Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorJ. Altmüller, J. Altmüller Institute of Human Genetics, University of Cologne, Cologne, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorH. Thiele, H. Thiele Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorP. Nürnberg, P. Nürnberg Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorC. Netzer, C. Netzer Institute of Human Genetics, University of Cologne, Cologne, GermanySearch for more papers by this authorG. Nishimura, G. Nishimura Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorB. Wollnik, Corresponding Author B. Wollnik Institute of Human Genetics, University of Cologne, Cologne, Germany Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany Corresponding author: Prof. Bernd Wollnik, MD, Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany. Tel.: +49 551 39 7590; Fax: +49 551 39 9303; e-mail: bwollnik@uni-koeln.deSearch for more papers by this author First published: 14 October 2015 https://doi.org/10.1111/cge.12678Citations: 14 The authors declare no conflict of interest. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume89, Issue4April 2016Pages 517-519 RelatedInformation
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
杠赛来完成签到,获得积分10
刚刚
尊敬的金针菇完成签到,获得积分0
刚刚
lwh104完成签到,获得积分10
1秒前
欧阳正义发布了新的文献求助10
1秒前
mark发布了新的文献求助10
1秒前
1秒前
arabidopsis应助zxhhm采纳,获得10
2秒前
调皮的数据线关注了科研通微信公众号
2秒前
iNk应助科研通管家采纳,获得10
2秒前
iNk应助科研通管家采纳,获得10
2秒前
iNk应助科研通管家采纳,获得10
3秒前
3秒前
香蕉觅云应助科研通管家采纳,获得10
3秒前
小马甲应助科研通管家采纳,获得10
3秒前
完美世界应助科研通管家采纳,获得10
3秒前
Orange应助科研通管家采纳,获得10
3秒前
3秒前
3秒前
小荇完成签到,获得积分10
5秒前
Ava应助Koi采纳,获得10
6秒前
csa1007完成签到,获得积分10
7秒前
7秒前
小飞猪完成签到,获得积分20
8秒前
liaodongjun应助易念采纳,获得10
9秒前
10秒前
y13333发布了新的文献求助10
12秒前
13秒前
拼搏幻竹完成签到,获得积分20
16秒前
刘先生发布了新的文献求助10
18秒前
21秒前
所所应助维尼采纳,获得10
21秒前
22秒前
花薇Liv完成签到,获得积分10
24秒前
2224536发布了新的文献求助10
24秒前
namelorna完成签到,获得积分10
25秒前
戴帽子发布了新的文献求助10
26秒前
27秒前
欧阳正义发布了新的文献求助10
31秒前
刘国建郭菱香完成签到 ,获得积分10
31秒前
凉薄少年应助曾建采纳,获得10
33秒前
高分求助中
A new approach to the extrapolation of accelerated life test data 1000
Cognitive Neuroscience: The Biology of the Mind 1000
Technical Brochure TB 814: LPIT applications in HV gas insulated switchgear 1000
Immigrant Incorporation in East Asian Democracies 600
Nucleophilic substitution in azasydnone-modified dinitroanisoles 500
不知道标题是什么 500
A Preliminary Study on Correlation Between Independent Components of Facial Thermal Images and Subjective Assessment of Chronic Stress 500
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 3967402
求助须知:如何正确求助?哪些是违规求助? 3512674
关于积分的说明 11164607
捐赠科研通 3247562
什么是DOI,文献DOI怎么找? 1793955
邀请新用户注册赠送积分活动 874785
科研通“疑难数据库(出版商)”最低求助积分说明 804498