Article
Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix.
The Journal of biological chemistry - 25 Aug 1991
Tsuneyoshi T, Westerhausen A, Constantinou C D, Prockop D J
Abstract excerpt
Two substitutions for glycine in the triple-helical domain were found in type I procollagen synthesized by skin fibroblasts from two probands with lethal osteogenesis imperfecta. One was a substitution of valine for glycine alpha 1-637, and the other was a substitution of arginine for glycine alp...
Topics
- Alleles
- Base Sequence
- DNA
- Electrophoresis, Polyacrylamide Gel
- Female
- Genes, Lethal
- Glycine
- Hot Temperature
- Humans
- Infant, Newborn
- Infant, Newborn, Diseases
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization