Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22
Article first published online: 20 JUN 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 6, pages 532–541, June 2012
How to Cite
Carvalho, C., Bartnik, M., Pehlivan, D., Fang, P., Shen, J. and Lupski, J. (2012), Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. Clinical Genetics, 81: 532–541. doi: 10.1111/j.1399-0004.2011.01716.x
- Issue published online: 4 MAY 2012
- Article first published online: 20 JUN 2011
- Accepted manuscript online: 30 MAY 2011 05:18AM EST
- Received 18 January 2011, revised and accepted for publication 25 May 2011
The following Supporting information is available for this article:
Table S1. Breakpoint mapping
Table S2. X-chromosome inactivation studies
Additional Supporting information may be found in the online version of this article.
|CGE_1716_sm_ts1-ts2.doc||31K||Supporting info item|
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