Please use this identifier to cite or link to this item:
https://hdl.handle.net/20.500.12008/21996
How to cite
| Title: | A novel mutation in the OAR domain of the ARX gene |
| Authors: | Tapie, Alejandra Pi-Denis, Natalia Souto Silva, Jorge Vomero, Alejandra Peluffo, Gabriel Boidi, María Ciganda, Martín Curbelo, Nicolás Raggio, Victor Roche, Leda Pastro, Lucía |
| Type: | Artículo |
| Keywords: | ARX, Epilepsy, Mental retardation, Ohtahara syndrome |
| Issue Date: | 2017 |
| Abstract: | Mutations in ARX gene should be considered in patients with mental disabilityor/and epilepsy. It is an X-linked gene that has pleiotropic effects. Here, wereport the case of a boy diagnosed with Ohtahara syndrome. We performed themolecular analysis of the gene and identified a new missense mutation. |
| Publisher: | John Wiley Sons Ltd. |
| IN: | Clinical Case Reports, 2017, 5 (2), 170– 174 |
| Citation: | Tapie, A. , et al., A novel mutation in the OAR domain of the ARX gene. Clinical Case Reports, 2017, 5: 170-174. doi:10.1002/ccr3.769 |
| ISSN: | 2050-0904 |
| License: | Licencia Creative Commons Atribución (CC –BY 4.0) |
| Appears in Collections: | Publicaciones académicas y científicas - Facultad de Ciencias |
Files in This Item:
| File | Description | Size | Format | ||
|---|---|---|---|---|---|
| 101002ccr3769.pdf | 1,29 MB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License
