## Abstract It is well established that child sexual abuse is a considerable international problem, yet evidence regarding its prevalence in the United Kingdom is extremely sparse, with the most comprehensive study conducted over a decade ago. The aim of this study is to establish a current estimat
Osteogenesis imperfecta: The distinction from child abuse and the recognition of a variant form
β Scribed by Shaw, D. G. ;Hall, C. M. ;Carty, H.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 81 KB
- Volume
- 56
- Category
- Article
- ISSN
- 0148-7299
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Various mutations of genes encoding type I procollagen chains have been linked to osteogenesis imperfecta (OI). The mutations yield abnormal procollagen molecules that fold improperly. HSP 47, a stress-inducible protein localized to the endoplasmic reticulum (ER) of collagen-producing cells, may par
A substitution of arginine for glycine at amino acid position 154 of the al(1) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and IIUIV osteogenesis imperfecta, but appears to be milder than that of the previously describ