A novel mutation in the OAR domain of the ARX gene
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.
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| Drugi avtorji: | , , , , , , , , , |
| Format: | article |
| Jezik: | angleščina |
| Izdano: |
2017
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| Teme: | |
| Online dostop: | https://hdl.handle.net/20.500.12008/21996 |
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