1. Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation. Issue 12 (December 1994) Authors: Gomez-Lira, M; Sangalli, A; Pignatti, P F; Digilio, M C; Giannotti, A; Carnevale, E; Mottes, M Journal: Journal of medical genetics Issue: Volume 31:Issue 12(1994) Page Start: 965 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Segregation analysis of dominant osteogenesis imperfecta in Italy. Issue 6 (June 1990) Authors: Mottes, M; Cugola, L; Cappello, N; Pignatti, P F Journal: Journal of medical genetics Issue: Volume 27:Issue 6(1990) Page Start: 367 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗