Population screening for the mutation associated with osteogenesis imperfecta in dachshunds

  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},
  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

We regret sincerely not citing Schutz and others (2012) but, unfortunately, we did not come across their publication when browsing PubMed or similar search engines (possibly due to the fact that it

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A candidate causative mutation for OI in Dachshunds is identified and a fifth OI gene is identified located within this interval and encodes an essential chaperone involved in the correct folding of the collagen triple helix.

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