Article
Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.
The Journal of clinical investigation - 1 Oct 1993
Stover M L, Primorac D, Liu S C, McKinstry M B, Rowe D W
Abstract excerpt
Osteogenesis imperfecta (OI) type I is the mildest form of heritable bone fragility resulting from mutations within the COL1A1 gene. We studied fibroblasts established from a child with OI type I and demonstrated underproduction of alpha 1 (I) collagen chains and alpha 1 (I) mRNA. Indirect RNase...
Topics
- Adolescent
- Alleles
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Cell Line
- Collagen
- Exons
- Female
- Fibroblasts
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Osteogenesis Imperfecta
- Polymerase Chain Reaction
- RNA, Messenger