| 1 | OIEDS, COL1A1 |
| Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. | |
| Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC. | |
| J Biol Chem 280(19):19259-69. Epub 2005 Feb 22. 2005 | |