A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis

@inproceedings{Esapa2012AMW,
  title={A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis},
  author={Christopher T. Esapa and Rosie A. Head and Jeshmi Jeyabalan and Holly Evans and Tertius A. Hough and Michael Cheeseman and Eugene G. McNally and Andrew J. Carr and Gethin P. Thomas and Matthew A. Brown and Peter Ian Croucher and Steve D. M. Brown and Roger D. Cox and Rajesh V Thakker},
  booktitle={PloS one},
  year={2012}
}
Mutations of UDP-N-acetyl-alpha-D-galactosamine polypeptide N-acetyl galactosaminyl transferase 3 (GALNT3) result in familial tumoural calcinosis (FTC) and the hyperostosis-hyperphosphataemia syndrome (HHS), which are autosomal recessive disorders characterised by soft-tissue calcification and hyperphosphataemia. To facilitate in vivo studies of these heritable disorders of phosphate homeostasis, we embarked on establishing a mouse model by assessing progeny of mice treated with the chemical… CONTINUE READING
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