Affiliation: Sheffield Children's Hospital
- Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IVRebecca Pollitt
Sheffield Molecular Genetics Service, Sheffield Children s NHS Trust, Sheffield, United Kingdom
Hum Mutat 27:716. 2006..In addition rare mutations at the cleavage sites of the C-propeptide and the N-terminal signal peptide are described...