Article
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.
Human mutation - 1 Jan 1996
Zhuang J, Tromp G, Kuivaniemi H, Castells S, Bugge M, Prockop D J
Abstract excerpt
More than 150 mutations in the genes for type I procollagen have been found in unrelated patients with osteogenesis imperfecta (OI), but mutations have been difficult to define in many patients with the mildest forms of the disease. Here, we have used robotically automated sequencing of the cDNAs...
Topics
- Adult
- Alleles
- Base Sequence
- Child, Preschool
- DNA Primers
- Female
- Fibroblasts
- Genetic Testing
- Humans
- Infant
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Osteogenesis Imperfecta
- Point Mutation