Article
Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.
The Biochemical journal - 15 Nov 1992
Bateman J F, Moeller I, Hannagan M, Chan D, Cole W G
Abstract excerpt
Type I collagen alpha 1(I) glycine to serine substitutions, resulting from G-to-A mutations, were defined in three cases of osteogenesis imperfecta (OI). The Gly substitutions displayed a gradient of phenotypic severity according to the location of the mutation in the collagen triple helix. The m...
Topics
- Amino Acid Sequence
- Base Sequence
- Child
- Collagen
- Female
- Glycine
- Hot Temperature
- Humans
- Infant
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Heteroduplexes
- Osteogenesis Imperfecta
- Phenotype
- Protein Denaturation
- RNA, Messenger