Article
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.
Human mutation - 1 Jan 1997
Körkkö J, Kuivaniemi H, Paassilta P, Zhuang J, Tromp G, DePaepe A, Prockop D J, Ala-Kokko L
Abstract excerpt
Previous observations on mutations causing osteogenesis imperfecta (OI) suggested that unrelated patients had private mutations. Here preliminary studies on two patients with type I OI indicated that some mutations in the COL1A1 gene for type I procollagen cannot be detected by analyses of cDNAs....
Topics
- Alleles
- Blotting, Southern
- Collagen
- DNA
- DNA, Complementary
- Electrophoresis, Polyacrylamide Gel
- Exons
- Gene Expression
- Humans
- Mutation
- Osteogenesis Imperfecta
- Polymerase Chain Reaction
- Polymorphism, Genetic
- RNA, Messenger
- Sequence Analysis, DNA