The authors report no conflict of interest.
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease
Article first published online: 7 NOV 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 6, pages 571–575, June 2013
How to Cite
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease., , , , , , , , , , , , , .
- Issue published online: 23 APR 2013
- Article first published online: 7 NOV 2012
- Accepted manuscript online: 14 SEP 2012 08:57AM EST
- Manuscript Revised: 12 SEP 2012
- Manuscript Accepted: 12 SEP 2012
- Manuscript Received: 18 JUL 2012
- La Fondation GO
- Le Fond de la Recherche en Santé du Québec
- National Health and Medical Research Council
|cge12020-sup-0001-figureS1.tif||TIFF image||10626K||Fig. S1. Graph showing multipoint LOD scores. A hit of 5.3 was obtained at SNP rs11204451. Multipoint LOD scores were calculated using the Simwalk2 program, assuming autosomal dominant inheritance with 90% penetrance, a gene frequency of 0.0001 and marker allele isofrequencies.|
|cge12020-sup-0002-FigureS2.tif||TIFF image||17197K||Fig. S2. (a) Pedigree of the Parry family (Kufs1). (b) Pedigree of the Alabama family (Kufs2). Samples with an asterisk (*) were used for Next Generation Sequencing. Boxes indicate disease haplotype.|
|cge12020-sup-0003-TableS1.tif||TIFF image||2689K||Table S1. Detailed alignment statistics of the Next Generation Sequencing data.|
|cge12020-sup-0004-AppendixS1.doc||Word document||29K||Appendix S1. Supplementary method.|
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