Mutations in type 1 procollagen that cause osteogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies.

Abstract excerpt

Work by a large number of investigators over the last decade has established that over 90% of patients with osteogenesis imperfecta have mutations in one of the two genes for type I procollagen, that most unrelated probands have different mutations in the genes, and that the mutations found in mo...

Topics

• Cells, Cultured
• Collagen
• Gene Expression Regulation
• Humans
• Mutation
• Oligonucleotides, Antisense
• Osteogenesis Imperfecta
• Phenotype
• Procollagen