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Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family

Liu Hong-Yan, Huang Jia, Wu Dong, Li Tao, Guo Liang-Jie, Guo Qian-Nan, Wang Hong-Dan, Wang Rui-Li, Wang Yue

Year : 2016| Volume: 129| Issue : 1 | Page no: 88-91

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1 A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
Toshiyuki Seto,Toshiyuki Yamamoto,Keiko Shimojima,Haruo Shintaku
Human Genome Variation. 2017; 4: 17007
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