P4HB recurrent missense mutation causing Cole-Carpenter syndrome

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Padidela, R., Pollitt, R.C. orcid.org/0000-0002-8864-397X et al. (6 more authors) (2018) P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics, 55 (3). pp. 158-165. ISSN 0022-2593



Copyright, Publisher and Additional Information: © 2017 BMJ Publishing Group. This is an author produced version of a paper subsequently published in Journal of Medical Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: collagen processing; osteogenesis imperfecta; p4hb; recurrent mutation; skeletal dysplasia
  • Accepted: 15 November 2017
  • Published (online): 20 December 2017
  • Published: 22 February 2018
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > The Medical School (Sheffield) > Division of Genomic Medicine (Sheffield) > Department of Oncology and Metabolism (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 02 Jan 2018 13:45
Last Modified: 10 Jul 2020 10:03
Published Version: https://doi.org/10.1136/jmedgenet-2017-104899
Status: Published
Publisher: BMJ Publishing Group
Refereed: Yes
Identification Number: https://doi.org/10.1136/jmedgenet-2017-104899
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