Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

Jackson, G.C., Mittaz-Crettol, L., Taylor, J.A. et al. (17 more authors) (2012) Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Human Mutation, 33 (1). 144 - 157. ISSN 1059-7794

Abstract

Metadata

Authors/Creators:
  • Jackson, G.C.
  • Mittaz-Crettol, L.
  • Taylor, J.A.
  • Mortier, G.R.
  • Spranger, J.
  • Zabel, B.
  • Le Merrer, M.
  • Cormier-Daire, V.
  • Hall, C.M.
  • Offiah, A.
  • Wright, M.J.
  • Savarirayan, R.
  • Nishimura, G.
  • Ramsden, S.C.
  • Elles, R.
  • Bonafe, L.
  • Superti-Furga, A.
  • Unger, S.
  • Zankl, A.
  • Briggs, M.D.
Keywords: pseudoachondroplasia; multiple epiphyseal dysplasia; COMP; SLC26A2
Dates:
  • Published: January 2012
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 16 Sep 2014 10:06
Last Modified: 16 Sep 2014 10:06
Published Version: http://dx.doi.org/10.1002/humu.21611
Status: Published
Publisher: Wiley
Identification Number: https://doi.org/10.1002/humu.21611

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