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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

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