It also has uses in studying the effects on collagen-I synthesis of mutations in genes associated with collagen synthesis, such as FKBP10 and PLOD2 (Bruck syndrome), and BMP1, CREB3L1, CRTAP, P3H1, PPIB, Serpinh1, and TMEM38B (osteogenesis imperfecta). This evidence concerns the gene CREB3L1 and Bruck syndrome.