共 50 条
- [21] Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions Calcified Tissue International, 2016, 98 : 76 - 84
- [22] A missense mutation in Col1A1 in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE Human Genetics, 1997, 101 : 22 - 25
- [27] A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (09):