Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Hurst, J., Brown, S. et al. (16 more authors) (2016) Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Bone, 94. pp. 65-74. ISSN 8756-3282

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Copyright, Publisher and Additional Information: © 2016 Elsevier. This is an author produced version of a paper subsequently published in Bone. Uploaded in accordance with the publisher's self-archiving policy. Article available under the terms of the CC-BY-NC-ND licence (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Keywords: Bone; Collagen expression; Fragility; NBAS; Nonsense mediated decay (NMD); Osteogenesis imperfecta; Secretory pathway
Dates:
  • Published: January 2016
  • Published (online): 24 October 2016
  • Accepted: 21 October 2016
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Neuroscience (Sheffield)
The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield) > Division of Genomic Medicine (Sheffield) > Department of Oncology (Sheffield)
Funding Information:
FunderGrant number
THE CHILDRENS HOSPITAL CHARITYUNSPECIFIED
Depositing User: Symplectic Sheffield
Date Deposited: 07 Dec 2016 11:50
Last Modified: 25 Oct 2017 12:40
Published Version: https://doi.org/10.1016/j.bone.2016.10.023
Status: Published
Publisher: Elsevier
Refereed: Yes
Identification Number: https://doi.org/10.1016/j.bone.2016.10.023
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