Thirty-Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients
Article first published online: 11 JUN 2013
© 2013 John Wiley & Sons Ltd/University College London
Annals of Human Genetics
Volume 77, Issue 5, pages 364–379, September 2013
How to Cite
Nemethova, M., Bolcekova, A., Ilencikova, D., Durovcikova, D., Hlinkova, K., Hlavata, A., Kovacs, L., Kadasi, L. and Zatkova, A. (2013), Thirty-Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients. Annals of Human Genetics, 77: 364–379. doi: 10.1111/ahg.12026
- Issue published online: 6 AUG 2013
- Article first published online: 11 JUN 2013
- Manuscript Accepted: 22 APR 2013
- Manuscript Received: 12 DEC 2012
- VEGA AGENCY. Grant Number: 2/0104/10
Disclaimer: Supplementary materials have been peer-reviewed but not copyedited.
|ahg12026-sup-0001-TableS1.pdf||528K||Table S1 Summary of main clinical symptoms identified in 124 Slovak patients with NF1 features sent to our laboratory for NF1 mutation analysis.|
|ahg12026-sup-0002-FigureS1.tif||716K||Figure S1 MLPA analysis in patient P32, who has type I deletion of the entire NF1 involving neighboring genes (set P122).|
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