Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta.

Aftab, S.A., Reddy, N., Owen, N.L. et al. (5 more authors) (2013) Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta. Endocrinology, Diabetes and Metabolism Case Reports, 2013. p. 130002.

Abstract

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Copyright, Publisher and Additional Information: © 2013 The authors. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.
Dates:
  • Published: 1 July 2013
  • Accepted: 30 May 2013
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: 03 Aug 2016 15:21
Last Modified: 03 Aug 2016 15:21
Published Version: http://dx.doi.org/10.1530/EDM-13-0002
Status: Published
Publisher: BioScientifica
Refereed: Yes
Identification Number: https://doi.org/10.1530/EDM-13-0002
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