Article
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.
American journal of medical genetics - 11 Jan 1996
Zhuang J, Tromp G, Kuivaniemi H, Castells S, Prockop D J
Abstract excerpt
A substitution of arginine for glycine at amino acid position 154 of the alpha 1(I) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and III/IV osteogenesis imperfecta, but appears to be milder than that of the previousl...
Topics
- Adult
- Base Sequence
- Child, Preschool
- Collagen
- Female
- Genetic Variation
- Humans
- Infant
- Male
- Molecular Sequence Data
- Osteogenesis Imperfecta
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic