| 1 | COL1A1, COL1A2, OI3A, OPM |
| Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. | |
| Nuytinck L, et al. | |
| Hum Genet 97 : 324-329. 1996 | |
| 2 | OPM |
| Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis : evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. | |
| Spotila LD, et al. | |
| Proc Natl Acad Sci U S A 88 : 5423-5427. 1991 | |