Article
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.
American journal of human genetics - 1 Jan 1998
Körkkö J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop D J
Abstract excerpt
Although >90% of patients with osteogenesis imperfecta (OI) have been estimated to have mutations in the COL1A1 and COL1A2 genes for type I procollagen, mutations have been difficult to detect in all patients with the mildest forms of the disease (i.e., type I). In this study, we first searched f...
Topics
- Adult
- Alleles
- Consensus Sequence
- DNA
- DNA Mutational Analysis
- DNA Primers
- DNA, Complementary
- Electrophoresis, Polyacrylamide Gel
- Humans
- Mutation
- Osteogenesis Imperfecta