Article
Incorporation of type I collagen molecules that contain a mutant alpha 2(I) chain (Gly580-->Asp) into bone matrix in a lethal case of osteogenesis imperfecta.
The Journal of biological chemistry - 15 Nov 1992
Niyibizi C, Bonadio J, Byers P H, Eyre D R
Abstract excerpt
To understand more directly the tissue defect in osteogenesis imperfecta (OI), bone matrix was analyzed from an infant with lethal OI (type II) of defined mutation (collagen alpha 2(I)Gly580-->Asp). Pepsin-solubilized alpha 1(I) and alpha 2(I) chains and derived CNBr-peptides migrated more slowly...
Topics
- Amino Acid Sequence
- Aspartic Acid
- Base Sequence
- Bone Matrix
- Cloning, Molecular
- Collagen
- DNA
- Genes, Lethal
- Glycine
- Humans
- Infant
- Macromolecular Substances
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Osteogenesis Imperfecta
- RNA
- Reference Values