Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood
Article first published online: 7 APR 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 5, pages 470–478, May 2012
How to Cite
Sasa, G., Ribes-Zamora, A., Nelson, N. and Bertuch, A. (2012), Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clinical Genetics, 81: 470–478. doi: 10.1111/j.1399-0004.2011.01658.x
- Issue published online: 11 APR 2012
- Article first published online: 7 APR 2011
- Accepted manuscript online: 24 FEB 2011 08:49PM EST
- Received 13 December 2010, revised and accepted for publication 22 February 2011
The following Supporting information is available for this article:
Fig. S1. Western blotting of whole cell extracts from LCLs of (A) wild type control (WT) and Patient 1 (P1), and (B) Patient 1's sibling (S1; TINF2 wild type) and Patient 2 (P2). Membranes were probed with α-TIN2 and α–β actin antibodies. The positions of the full-length short isoform of TIN2 and the truncated TIN2 are denoted by arrows. β-Actin served as the loading control.
Additional Supporting information may be found in the online version of this article.
|CGE_1658_sm_fs1.tif||493K||Supporting info item|
Please note: Wiley Blackwell is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.