Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect
Article first published online: 1 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 6, pages 1329–1338, June 2013
How to Cite
2013. Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect. Am J Med Genet Part A 161A:1329–1338., , , .
- Issue published online: 22 MAY 2013
- Article first published online: 1 MAY 2013
- Manuscript Accepted: 1 FEB 2013
- Manuscript Received: 21 AUG 2012
Additional supplementary material may be found in the online version of this article.
|ajmga35919-sm-0001-SupTab-1.doc||30K||Supplementary Table I. The location and sequences of the 5' home-made MLPA probes. Within the MLPA probe sequences, the binding sites are shown in uppercase.|
|ajmga35919-sm-0002-SupTab-2.doc||41K||Supplementary Table II. The 40 MLPA 3' variants detected in the normal cohort.|
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