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- Title
Variable Bone Fragility Associated With an Amish COL1A2 Variant and a Knock-in Mouse Model.
- Authors
Daley, Ethan; Streeten, Elizabeth A.; Sorkin, John D.; Kuznetsova, Natalia; Shapses, Sue A.; Carleton, Stephanie M.; Shuldiner, Alan R.; Marini, Joan C.; Phillips, Charlotte L.; Goldstein, Steven A.; Leikin, Sergey; McBride Jr., Daniel J.
- Abstract
The article focuses on relation of an Amish COL1A2 variant to osteogenesis imperfecta (OI), which is a hereditary form of fragility of the bone caused by the dominant COL1A1 or COL1A2 mutation. A study that explores the association of the osteogenesis imperfecta and Amish COL1A2, which used a new OI mouse model on a specific collagen mutation, found that the best way to identify modifying genes that effect phenotype and for OI therapy testing is the G610C OI (Amish) knock-in mouse.
- Subjects
BONES; LABORATORY mice; BONE growth; HEREDITY; GENETIC mutation
- Publication
Journal of Bone & Mineral Research, 2010, Vol 25, Issue 2, p247
- ISSN
0884-0431
- Publication type
Article
- DOI
10.1359/jbmr.090720