The copyright line in this article was changed on August 26, 2014 after original online publication.
As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene†
Article first published online: 25 JUN 2014
© 2014 Italian National Research Council. Journal of Bone and Mineral Research published by Wiley Periodicals, Inc. on behalf of the American Society for Bone and Mineral Research
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
Journal of Bone and Mineral Research
Volume 29, Issue 7, pages 1646–1650, July 2014
How to Cite
Sobacchi, C., Pangrazio, A., Lopez, A. G.-M., Gomez, D. P.-V., Caldana, M. E., Susani, L., Vezzoni, P. and Villa, A. (2014), As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene. J Bone Miner Res, 29: 1646–1650. doi: 10.1002/jbmr.2203
- Issue published online: 25 JUN 2014
- Article first published online: 25 JUN 2014
- Accepted manuscript online: 18 FEB 2014 07:21AM EST
- Manuscript Accepted: 9 FEB 2014
- Manuscript Revised: 23 JAN 2014
- Manuscript Received: 4 DEC 2013
- Telethon Foundation. Grant Number: GGP12178
- PRIN. Grant Numbers: 200999KRFW-002, 20102M7T8X_003
- Giovani Ricercatori from Ministero della Salute. Grant Number: GR-2008-1134625
- Ricerca Finalizzata from Ministero della salute. Grant Number: RF-2009-1499,542
- European Community's Seventh Framework Program. Grant Number: FP7/2007-2013
- PNR-CNR Aging Program. Grant Number: 2012-2014
Additional Supporting Information may be found in the online version of this article.
|jbmr2203-sm-0001-SuppFig-S1.pdf||52K||Supplementary Figure 1. Frontal and lateral view of the patient at 8 years of age.|
|jbmr2203-sm-0001-SuppFig-S2.pdf||54K||Supplementary Figure 2. Alignment of the transcripts produced from the mutant TCIRG1 to the genomic sequence. Exons are depicted in black, introns in blue.|
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