共 50 条
- [3] Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions Calcified Tissue International, 2016, 98 : 76 - 84
- [4] Osteogenesis imperfecta type 1: A case presentation with a new mutation in gene COL1A1 KLINISCHE PADIATRIE, 2004, 216 (02): : 91 - 93
- [6] Osteogenesis imperfecta - New mutation in the Col1a1 gene PROCEEDINGS OF THE 8TH WORLD CONGRESS OF PERINATAL MEDICINE, 2007, : 799 - 802
- [7] A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta GENETICS AND MOLECULAR RESEARCH, 2015, 14 (04): : 15295 - 15300
- [9] COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report FRONTIERS IN SURGERY, 2022, 9