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). Here, SERPINH1 is linked to Bruck syndrome.