Homozygous loss-of-function mutations in CCDC134 are responsible for a severe form of osteogenesis imperfecta

被引：0
|
作者：
Dubail, J. [1 ]
Brunelle, P. [1 ]
Baujat, G. [1 ]
Huber, C. [1 ]
Doyard, M. [1 ]
Michot, C. [1 ]
Chavassieux, P. [2 ]
Khairouni, A.
Topouchian, V. [3 ]
Monnot, S. [1 ]
Koumakis, E. [1 ,4 ]
Cormier-Daire, V. [1 ]
机构：
[1] INSERM, U1163, Inst Imagine, Paris, France
[2] Univ Lyon, INSERM, UMR 1033, Lyon, France
[3] Necker Enfants Malad Hosp, Paris, France
[4] Cochin Hosp, Dept Rheumatol, Paris, France
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
C29.1
引用
收藏
页码：131 / 132
页数：2
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