Article
Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.
American journal of medical genetics - 3 May 1996
Dyne K M, Valli M, Forlino A, Mottes M, Kresse H, Cetta G
Abstract excerpt
In osteogenesis imperfecta (OI) the effects of mutations in type I collagen genes generally reflect their nature and localization. Unrelated individuals sharing identical mutations present, in general, similar clinical phenotypes. However, in some such cases the clinical phenotype differs. This v...
Topics
- Blotting, Northern
- Blotting, Western
- Cells, Cultured
- Decorin
- Extracellular Matrix Proteins
- Female
- Fibroblasts
- Genes, Lethal
- Genetic Carrier Screening
- Glycine
- Humans
- Infant, Newborn
- Male
- Osteogenesis Imperfecta
- Phenotype
- Point Mutation
- Proteoglycans
- RNA, Messenger