these results confirm that mutations in the triple helical region of alpha 2 ( i ) chains produce a milder phenotype than analogous mutations in the alpha 1 ( i ) chains , but indicate that , in addition to defects in the type i collagen molecule , other factors may modulate the degree of bone involvement in osteogenesis imperfecta .
C0262950
bone
C0029434
osteogenesis imperfecta