Article
Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.
The Journal of biological chemistry - 25 Nov 1993
Wang Q, Orrison B M, Marini J C
Abstract excerpt
The relationship between the clinical severity of osteogenesis imperfecta (OI) and the location and type of amino acid substitution in type I collagen is not identical for mutations in the alpha 1(I) and alpha 2(I) chains. Furthermore, the alpha 2(I) chain, once thought to be associated with mode...
Topics
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- Collagen
- Cyanogen Bromide
- DNA
- Female
- Glycine
- Humans
- Molecular Sequence Data
- Osteogenesis Imperfecta
- Phenotype
- Point Mutation
- RNA