Identification and Confirmation of an Exonic Splicing Enhancer Variation in Exon 5 of the Alzheimer Disease Associated PICALM Gene
Article first published online: 4 SEP 2012
© 2012 The Authors Annals of Human Genetics © 2012 Blackwell Publishing Ltd/University College London
Annals of Human Genetics
Volume 76, Issue 6, pages 448–453, November 2012
How to Cite
Schnetz-Boutaud, N. C., Hoffman, J., Coe, J. E., Murdock, D. G., Pericak-Vance, M. A. and Haines, J. L. (2012), Identification and Confirmation of an Exonic Splicing Enhancer Variation in Exon 5 of the Alzheimer Disease Associated PICALM Gene. Annals of Human Genetics, 76: 448–453. doi: 10.1111/j.1469-1809.2012.00727.x
- Issue published online: 15 OCT 2012
- Article first published online: 4 SEP 2012
- Received: 20 March 2012 , Accepted: 13 July 2012
Table S1 Primer sequences.
Table S2 Allele frequencies for rs592297.
Figure S1 PICALM exon 5 sequence.
Figure S2 Representation of the PICALM gene. All the coding SNPs from dbSNP (list obtained April 5th 2011) were added to the figure next to their corresponding coding region.
Figure S3 ESE results for exon 5 (http://rulai.cshl.edu/tools/ESE2/).
Figure S4 Linkage disequilibrium schematic for PICALM.
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