A young girl presented with severe type 111 osteogenesis imperfecta; her otherwise healthy mother also had a mild connective tissue disorder with blue sclerae and recurrent joint dislocations. Skin fibroblast cultures from the child produced both normal and post-translationally overmodified type I c
✦ LIBER ✦
Novel mutation in the carboxyl-terminal propeptide of the procollagen α1(I) chain in a girl with prenatal cortical hyperostosis and multiple fractures
✍ Scribed by K.M. Roetzer; F. Laccone; A. Krebs; F. Grill; S. Robins; F. Varga; K. Klaushofer; A. Al Kaissi
- Book ID
- 116322310
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 90 KB
- Volume
- 45
- Category
- Article
- ISSN
- 8756-3282
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Communicated by Cha& I. Epstein More than 150 mutations in the genes for type I procollagein have been found in unrelated patients with osteogenesis imperfecta (01), but mutations have been difficult to define in many patients with the mildest forms of the disease. Here, we have used robotically aut