Journal
G3
Publication Date
2015
Volume
5
Issue
2
Inclusive Pages
167-174
Document Type
Open Access Publication
DOI
10.1534/g3.114.015669
Rights and Permissions
Baschal, E.E., et al (2015), Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis. G3, 5(2): 167-174. doi: 10.1534/g3.114.015669
Recommended Citation
Baschal, Erin E.; Wethey, Cambria I.; Swindle, Kandice; Baschal, Robin M.; Gowan, Katherine; Tang, Nelson L.S.; Alvarado, David M.; Haller, Gabe E.; Dobbs, Matthew B.; Taylor, Matthew R.G.; Gurnett, Christina A.; Jones, Kenneth L.; and Miller, Nancy H., "Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis." G3. 5, 2. 167-174. (2015).
https://digitalcommons.wustl.edu/open_access_pubs/4501
Supplemental Methods
TableS1.xlsx (15 kB)
Primers used in this study
TableS2.xlsx (15 kB)
Additional details for the 16 variants identified in our multigenerational family with IS
TableS3.xlsx (11 kB)
Sanger sequencing results for 15 variants in our multigenerational family with IS
TableS4.xlsx (13 kB)
Additional details for the 21 HSPG2 variants identified in individuals with IS
TableS5.xlsx (13 kB)
HSPG2 mutations reported in individuals with either SJS1 or DDSH. This is not a comprehensive list, but represents the majority of reported HSPG2 mutations