These authors contributed equally to this study.
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia
Article first published online: 11 MAR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 85, Issue 2, pages 166–171, February 2014
How to Cite
Maselli, R.A., Arredondo, J., Nguyen, J., Lara, M., Ng, F., Ngo, M., Pham, J.M., Yi, Q., Stajich, J.M., McDonald, K., Hauser, M.A. and Wollmann, R.L. (2014), Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia. Clinical Genetics, 85: 166–171. doi: 10.1111/cge.12118
Nothing to declare.
- Issue published online: 13 JAN 2014
- Article first published online: 11 MAR 2013
- Manuscript Revised: 1 FEB 2013
- Manuscript Accepted: 1 FEB 2013
- Manuscript Received: 22 OCT 2012
- NIH. Grant Number: 5R01NS049117-03
- The Myasthenia Gravis Foundation of California
- The Muscular Dystrophy Association. Grant Numbers: MDA 4090, MDA 186447
|cge12118-sup-0001-AppendixS1.docx||Word 2007 document||39K||Appendix S1. Supplementary exome methods.|
|cge12118-sup-0002-TableS1.xlsx||Word 2007 document||17K||Table S1.Single nucleotide variants.|
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