Presence of a thermostable domain in the helical part of the type I collagen molecule and its role in the mechanism of triple helix folding
โ Scribed by Tengiz V. Burjanadze; Manama O. Bezhitadze
- Publisher
- Wiley (John Wiley & Sons)
- Year
- 1992
- Tongue
- English
- Weight
- 509 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0006-3525
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๐ SIMILAR VOLUMES
Triple helix formation is a prerequisite for the passage of type I procollagen from the endoplasmic reticulum and secretion from the cell to form extracellular fibrils that will support mineral deposition in bone. Analysis of cDNA from 11 unrelated individuals with osteogenesis imperfecta (OI) revea
## 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
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