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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta 期刊论文
发表期刊: NATURE COMMUNICATIONS. 出版年: 2016, 卷号: 7
作者:  Lindert, Uschi;  Cabral, Wayne A.;  Ausavarat, Surasawadee;  Tongkobpetch, Siraprapa;  Ludin, Katja;  Barnes, Aileen M.;  Yeetong, Patra;  Weis, Maryann;  Krabichler, Birgit;  Srichomthong, Chalurmpon;  Makareeva, Elena N.;  Janecke, Andreas R.;  Leikin, Sergey;  Rothlisberger, Benno;  Rohrbach, Marianne;  Kennerknecht, Ingo;  Eyre, David R.;  Suphapeetiporn, Kanya;  Giunta, Cecilia;  Marini, Joan C.;  Shotelersuk, Vorasuk
Adobe PDF(1946Kb)  |  收藏  |  浏览/下载:7/2  |  提交时间:2019/11/29
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation 期刊论文
发表期刊: CURRENT OPINION IN PEDIATRICS. 出版年: 2014, 卷号: 26, 期号: 4, 页码: 500-507
作者:  Marini, Joan C.;  Reich, Adi;  Smith, Simone M.
收藏  |  浏览/下载:11/0  |  提交时间:2019/11/29
bone dysplasia  collagen  OI  osteogenesis imperfecta  recessive osteogenesis imperfecta