Article
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
Proceedings of the National Academy of Sciences of the United States of America - 15 Jun 1991
Spotila L D, Constantinou C D, Sereda L, Ganguly A, Riggs B L, Prockop D J
Abstract excerpt
Mutations in the two genes for type I collagen (COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable disease characterized by moderate to extreme brittleness of bone early in life. Here we show that a 52-year-old postmenopausal woman with severe osteopenia and a compression fracture...
Topics
- Adult
- Base Sequence
- Collagen
- Electrophoresis, Polyacrylamide Gel
- Female
- Genotype
- Humans
- Middle Aged
- Molecular Sequence Data
- Mutation
- Osteogenesis Imperfecta
- Osteoporosis, Postmenopausal
- Phenotype
- Polymerase Chain Reaction