To determine if some individuals with deforming varieties of osteogenesis imperfecta (OI) carry point mutations in the COL1A2 gene of type-I collagen, we examined collagens synthesized by cell strains from affected individuals for the presence of cysteine in the triple helical domain of the alpha 2
Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
✍ Scribed by Rauch, Frank; Lalic, Liljana; Roughley, Peter; Glorieux, Francis H
- Book ID
- 109849111
- Publisher
- Nature Publishing Group
- Year
- 2010
- Tongue
- English
- Weight
- 342 KB
- Volume
- 18
- Category
- Article
- ISSN
- 1018-4813
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📜 SIMILAR VOLUMES
Osteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by fragile bones and easy susceptibility to fracture. Most cases of OI are caused by mutations in type I collagen. We have identified and assembled structural mutations in type I collagen genes (COL1A1 and COL1
## Clinical Data on Patients KO was 35 years of age at the time her cell strain was sent to us. She was born to healthy unrelated parents and has two healthy siblings, both of whom have unaffected children, and no other individuals with 0 1 were identified in the family. She had many fractures at