Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta

被引：17
|
作者：
Moosa, S. [1 ,2 ,3 ,4 ]
Chung, B. H. -Y. [5 ]
Tung, J. Y. -L. [5 ]
Altmueller, J. [1 ,6 ]
Thiele, H. [6 ]
Nuernberg, P. [3 ,4 ,6 ]
Netzer, C. [1 ]
Nishimura, G. [7 ]
Wollnik, B. [1 ,2 ,3 ,4 ]
机构：
[1] Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany
[2] Univ Med Ctr Gottingen, Inst Human Genet, Heinrich Duker Weg 12, D-37073 Gottingen, Germany
[3] Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany
[4] Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, D-50931 Cologne, Germany
[5] Queen Mary Hosp, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China
[6] Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany
[7] Tokyo Metropolitan Childrens Med Ctr, Dept Pediat Imaging, Tokyo, Japan
来源：
CLINICAL GENETICS | 2016年 / 89卷 / 04期
关键词：
D O I：
10.1111/cge.12678
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：517 / 519
页数：3
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