Open Access Highly Accessed Research article

Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease

Matthew T Bishop1*, Pascual Sanchez-Juan2 and Richard SG Knight1

Author Affiliations

1 National CJD Research & Surveillance Unit, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK

2 Neurology Department, University Hospital “Marqués de Valdecilla”. Fundación “Marqués de Valdecilla” (University of Cantabria) IFIMAV and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain

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BMC Medical Genetics 2013, 14:91  doi:10.1186/1471-2350-14-91

Published: 12 September 2013

Additional files

Additional file 1: Table S1:

Description: PLINK output for the top 30 targets from association analysis and ordered by significance.

Format: XLS Size: 10KB Download file

This file can be viewed with: Microsoft Excel Viewer

Open Data

Additional file 2: Table S2:

Description: Scoring of potential splice site motifs for PLCXD3 SNP variants using SVM-BPfinder.

Format: XLS Size: 10KB Download file

This file can be viewed with: Microsoft Excel Viewer

Open Data