Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly
Version of Record online: 13 MAY 2010
© 2010 John Wiley & Sons A/S
Volume 79, Issue 4, pages 371–377, April 2011
How to Cite
Albuisson, J., Isidor, B., Giraud, M., Pichon, O., Marsaud, T., David, A., Le Caignec, C. and Bezieau, S. (2011), Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly. Clinical Genetics, 79: 371–377. doi: 10.1111/j.1399-0004.2010.01465.x
- Issue online: 4 MAR 2011
- Version of Record online: 13 MAY 2010
- Received 26 February 2010, revised and accepted for publication 10 May 2010
The following Supporting information is available for this article:
Fig. S1. (a) Genomic structure of the SHH locus. Candidate conserved non-coding sequences are represented by blue spots. Previously published enhancers represent three of five selected CNS (CNS3 is SHH_2, CNS4 is C7orf2_3 CNS5 is HLXB9_1 plus HLXB9_2 from Refs 26, 27). (b) Interspecies conservation of LMBR1 according to ECR Browser. Exon 5, intron 5 (including the ZRS) and exon 6 are shown.
Table S1. Primers used to amplify the ZRS and pZRS, the five-candidate CNS and the JAG2 control gene.
Additional Supporting information may be found in the online version of this article.
|CGE_1465_sm_FigS1.pdf||168K||Supporting info item|
|CGE_1465_sm_TableS1.doc||22K||Supporting info item|
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