1. Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule. Issue 6 (June 1989) Authors: Superti-Furga, A; Pistone, F; Romano, C; Steinmann, B Journal: Journal of medical genetics Issue: Volume 26:Issue 6(1989) Page Start: 358 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. Issue 8 (August 1996) Authors: Winterpacht, A; Superti-Furga, A; Schwarze, U; Stöss, H; Steinmann, B; Spranger, J; Zabel, B Journal: Journal of medical genetics Issue: Volume 33:Issue 8(1996) Page Start: 649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗