Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability
Version of Record online: 5 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 10, pages 2564–2569, October 2013
How to Cite
2013. Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability. Am J Med Genet Part A 161A:2564–2569., , , , , , , , , .
- Issue online: 17 SEP 2013
- Version of Record online: 5 AUG 2013
- Manuscript Accepted: 13 MAY 2013
- Manuscript Received: 21 DEC 2012
- French Ministry of Health
Additional supporting information may be found in the online version of this article at the publisher's web-site.
|ajmga36079-sm-0001-SupFig-S1.tif||9146K||FIG. S1. aCGH and FISH results. a–c: aCGH results for the patients showing GRIN2B deletion in Patient 1 (4.1 Mb deletion) (a), Patient 2 (2.6 Mb deletion) (b) and Patient 3 (c) (547 kb deletion). d,e: Confirmation by FISH analysis using the BAC clone RP11-320J20 showing the 12p13.1 deletion (arrow) in Patient 1 (d) and Patient 2 (e).|
|ajmga36079-sm-0002-SupTab-S1.docx||12K||TABLE SI. qPCR Results Confirming GRIN2B Deletion in Patients 1, 2, and 3, Using Specific Primers for Exon 1 and Exon 2.|
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