Population screening for the mutation associated with osteogenesis imperfecta in dachshunds

@article{Eckardt2013PopulationSF,
  title={Population screening for the mutation associated with osteogenesis imperfecta in dachshunds},
  author={Judith Eckardt and Susanne Kluth and Claudia Dierks and Ute Philipp and Ottmar Distl},
  journal={Veterinary Record},
  year={2013},
  volume={172},
  pages={364 - 364}
}
Osteogenesis imperfecta (OI) is a genetic disorder causing defects in the development of collagen type I. Clinical signs of affected dachshunds include multiple fractures of bones, joint hyperlaxity and dentinogenesis imperfecta. Recently, a recessive mutation in the SERPINH1 gene was detected in dachshunds and enabled the development of a DNA test to identify dachshunds carrying the mutation. The purpose of the present study was to analyse the dachshund breeding population for the frequency of… 

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J. Eckardt, S. Kluth, C. Dierks, U. Philipp and O. Distl comment

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