Article
Predicting the clinical lethality of osteogenesis imperfecta from collagen glycine mutations.
Biochemistry - 13 May 2008
Bodian Dale L, Madhan Balaraman, Brodsky Barbara, Klein Teri E
Abstract excerpt
Osteogenesis imperfecta (OI), or brittle bone disease, often results from missense mutation of one of the conserved glycine residues present in the repeating Gly-X-Y sequence characterizing the triple-helical region of type I collagen. A composite model was developed for predicting the clinical lethality resulting from glycine mutations in the alpha1 chain of type I collagen. The lethality of mutations in which...
Topics
- Amino Acid Substitution
- Circular Dichroism
- Collagen Type I
- Collagen Type I, alpha 1 Chain
- Glycine
- Humans
- Models, Biological
- Mutation
- Osteogenesis Imperfecta