Article
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
Human molecular genetics - 1 Aug 1993
Mackay K, Byers P H, Dalgleish R
Abstract excerpt
A strategy has been developed to allow the screening for mutations in the cDNA of the type I collagen alpha 1 chain. The method involves polymerase chain reaction amplification of four overlapping segments covering the majority of the sequence coding for alpha 1(I) collagen. Four or five restrict...
Topics
- Adult
- Base Sequence
- Cell Line
- Cloning, Molecular
- Collagen
- DNA
- DNA Primers
- Female
- Humans
- Infant
- Infant, Newborn
- Macromolecular Substances
- Male
- Molecular Sequence Data
- Mutation
- Osteogenesis Imperfecta
- Polymerase Chain Reaction
- Polymorphism, Genetic