Article
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.
Human mutation - 1 Jan 1996
Oliver J E, Thompson E M, Pope F M, Nicholls A C
Abstract excerpt
A young girl presented with severe type III osteogenesis imperfecta; her otherwise healthy mother also had a mild connective tissue disorder with blue sclerae and recurrent joint dislocations. Skin fibroblast cultures from the child produced both normal and post-translationally over-modified type I collagen. The mutant collagen was poorly secreted but had normal thermal stability. Cyanogen bromide peptide maps of...
Topics
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA
- Female
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Molecular Sequence Data
- Mosaicism
- Mutation
- Osteogenesis Imperfecta
- Procollagen
- Protein Folding