Article
Two cysteine substitutions in procollagen I: a glycine replacement near the N-terminus of alpha 1(I) chain causes lethal osteogenesis imperfecta and a glycine replacement in the alpha 2(I) chain markedly destabilizes the triple helix.
The Biochemical journal - 1 Jan 1993
Fertala A, Westerhausen A, Morris G, Rooney J E, Prockop D J
Abstract excerpt
Cultured skin fibroblasts were examined from two probands with type II (lethal) osteogenesis imperfecta. One proband had a single base mutation which converted the glycine codon at position alpha 1-244 in the alpha 1(I) chain of procollagen I into a cysteine codon whereas the other had a similar...
Topics
- Base Sequence
- Cells, Cultured
- Cysteine
- DNA
- Fibroblasts
- Genes, Lethal
- Glycine
- Humans
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Osteogenesis Imperfecta
- Procollagen
- Protein Processing, Post-Translational