A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

@inproceedings{Drgemller2009AMM,
  title={A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta},
  author={Cord Dr{\"o}gem{\"u}ller and Doreen Becker and Adrian Brunner and Bianca Haase and Patrick Kircher and Frank Seeliger and Michael Fehr and Ulrich Baumann and Kerstin Lindblad-Toh and Tosso Leeb},
  booktitle={PLoS genetics},
  year={2009}
}
Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I. Recently, mutations in the CRTAP and LEPRE1 genes were found to cause some rare forms of human OI. Many OI cases exist where the causative mutation has not yet been found. We investigated Dachshunds with an autosomal recessive… CONTINUE READING