WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
✍ Scribed by Laine, Christine M.; Joeng, Kyu Sang; Campeau, Philippe M.; Kiviranta, Riku; Tarkkonen, Kati; Grover, Monica; Lu, James T.; Pekkinen, Minna; Wessman, Maija; Heino, Terhi J.; Nieminen-Pihala, Vappu; Aronen, Mira; Laine, Tero; Kröger, Heikki; Cole, William G.; Lehesjoki, Anna-Elina; Nevarez, Lisette; Krakow, Deborah; Curry, Cynthia J.R.; Cohn, Daniel H.; Gibbs, Richard A.; Lee, Brendan H.; Mäkitie, Outi
- Book ID
- 120317681
- Publisher
- Massachusetts Medical Society
- Year
- 2013
- Tongue
- English
- Weight
- 804 KB
- Volume
- 368
- Category
- Article
- ISSN
- 0096-6762
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Recently, dysregulation of hydroxylation of a single proline residue at position 986 of both the triple-helical domains of type I collagen a1(I) and type II
## Abstract Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational process