Article
Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.
The Journal of clinical investigation - 15 Feb 1996
Redford-Badwal D A, Stover M L, Valli M, McKinstry M B, Rowe D W
Abstract excerpt
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder characterized by bone fragility. Most cases of severe OI result from mutations in the coding region of the COL1A1 or COL1A2 genes yielding an abnormal collagen alpha chain. In contrast, many patients with mild OI show evidence...
Topics
- Adult
- Alleles
- Base Sequence
- Cell Compartmentation
- Cell Nucleus
- Collagen
- DNA Primers
- Humans
- Molecular Sequence Data
- Osteogenesis Imperfecta
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- RNA, Messenger