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- [41] Osteogenesis Imperfecta Type I Caused by a Novel Mutation in the Start Codon of the COL1A1 Gene in a Korean Family ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2015, 45 (01): : 100 - 105
- [44] An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue SCIENTIFIC REPORTS, 2017, 7
- [48] Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2 CLINICAL CASE REPORTS, 2016, 4 (10): : 972 - 978