A novel mutation in the OAR domain of the ARX gene
Resumen:
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.
| 2017 | |
|
ARX Epilepsy Mental retardation Ohtahara syndrome |
|
| Inglés | |
| Universidad de la República | |
| COLIBRI | |
| https://hdl.handle.net/20.500.12008/21996 | |
| Acceso abierto | |
| Licencia Creative Commons Atribución (CC –BY 4.0) |
| _version_ | 1807522779248984064 |
|---|---|
| author | Tapie, Alejandra |
| author2 | Pi-Denis, Natalia Souto Silva, Jorge Vomero, Alejandra Peluffo, Gabriel Boidi, María Ciganda, Martín Curbelo, Nicolás Raggio, Victor Roche, Leda Pastro, Lucía |
| author2_role | author author author author author author author author author author |
| author_facet | Tapie, Alejandra Pi-Denis, Natalia Souto Silva, Jorge Vomero, Alejandra Peluffo, Gabriel Boidi, María Ciganda, Martín Curbelo, Nicolás Raggio, Victor Roche, Leda Pastro, Lucía |
| author_role | author |
| bitstream.checksum.fl_str_mv | 7f2e2c17ef6585de66da58d1bfa8b5e1 4fe6ac477f5a2df0424a5ff1a9bf000c a0ebbeafb9d2ec7cbb19d7137ebc392c bc1bc9659a4a06e9516479a5adfd8b0e 64579841a2ac0804973ca656cb5d105a |
| bitstream.checksumAlgorithm.fl_str_mv | MD5 MD5 MD5 MD5 MD5 |
| bitstream.url.fl_str_mv | http://localhost:8080/xmlui/bitstream/20.500.12008/21996/5/license.txt http://localhost:8080/xmlui/bitstream/20.500.12008/21996/2/license_text http://localhost:8080/xmlui/bitstream/20.500.12008/21996/3/license_url http://localhost:8080/xmlui/bitstream/20.500.12008/21996/4/license_rdf http://localhost:8080/xmlui/bitstream/20.500.12008/21996/1/101002ccr3769.pdf |
| collection | COLIBRI |
| dc.contributor.filiacion.es.fl_str_mv | Tapie, Alejandra. Universidad de la República (Uruguay). Facultad de Medicina Pi-Denis, Natalia. Universidad de la República (Uruguay). Facultad de Medicina Souto, Jorge. Universidad de la República (Uruguay). Facultad de Medicina Vomero, Alejandra. Universidad de la República (Uruguay). Facultad de Medicina Peluffo, Gabriel. Universidad de la República (Uruguay). Facultad de Medicina Boidi, María. Universidad de la República (Uruguay). Facultad de Medicina Ciganda, Martín. Universidad de la República (Uruguay). Facultad de Ciencias. Laboratorio de Interacciones Moleculares Curbelo, Nicolás. Universidad de la República (Uruguay). Facultad de Medicina Raggio, Victor. Universidad de la República (Uruguay). Facultad de Medicina Roche, Leda. Universidad de la República (Uruguay). Facultad de Medicina Pastro, Lucía. Universidad de la República (Uruguay). Facultad de Ciencias. Laboratorio de Interacciones Moleculares |
| dc.creator.none.fl_str_mv | Tapie, Alejandra Pi-Denis, Natalia Souto Silva, Jorge Vomero, Alejandra Peluffo, Gabriel Boidi, María Ciganda, Martín Curbelo, Nicolás Raggio, Victor Roche, Leda Pastro, Lucía |
| dc.date.accessioned.none.fl_str_mv | 2019-10-02T22:08:19Z |
| dc.date.available.none.fl_str_mv | 2019-10-02T22:08:19Z |
| dc.date.issued.es.fl_str_mv | 2017 |
| dc.date.submitted.es.fl_str_mv | 20190930 |
| dc.description.abstract.none.fl_txt_mv | 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. |
| dc.format.mimetype.es.fl_str_mv | application/pdf |
| dc.identifier.citation.es.fl_str_mv | 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 |
| dc.identifier.doi.es.fl_str_mv | 10.1002/ccr3.769 |
| dc.identifier.issn.es.fl_str_mv | 2050-0904 |
| dc.identifier.uri.none.fl_str_mv | https://hdl.handle.net/20.500.12008/21996 |
| dc.language.iso.none.fl_str_mv | en eng |
| dc.publisher.es.fl_str_mv | John Wiley Sons Ltd. |
| dc.relation.ispartof.es.fl_str_mv | Clinical Case Reports, 2017, 5 (2), 170– 174 |
| dc.rights.license.none.fl_str_mv | Licencia Creative Commons Atribución (CC –BY 4.0) |
| dc.rights.none.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.source.none.fl_str_mv | reponame:COLIBRI instname:Universidad de la República instacron:Universidad de la República |
| dc.subject.es.fl_str_mv | ARX Epilepsy Mental retardation Ohtahara syndrome |
| dc.title.none.fl_str_mv | A novel mutation in the OAR domain of the ARX gene |
| dc.type.es.fl_str_mv | Artículo |
| dc.type.none.fl_str_mv | info:eu-repo/semantics/article |
| dc.type.version.none.fl_str_mv | info:eu-repo/semantics/publishedVersion |
| description | 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | COLIBRI_0e44bcffa1fdb92985801f5fafb6e07a |
| identifier_str_mv | 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 2050-0904 10.1002/ccr3.769 |
| instacron_str | Universidad de la República |
| institution | Universidad de la República |
| instname_str | Universidad de la República |
| language | eng |
| language_invalid_str_mv | en |
| network_acronym_str | COLIBRI |
| network_name_str | COLIBRI |
| oai_identifier_str | oai:colibri.udelar.edu.uy:20.500.12008/21996 |
| publishDate | 2017 |
| reponame_str | COLIBRI |
| repository.mail.fl_str_mv | mabel.seroubian@seciu.edu.uy |
| repository.name.fl_str_mv | COLIBRI - Universidad de la República |
| repository_id_str | 4771 |
| rights_invalid_str_mv | Licencia Creative Commons Atribución (CC –BY 4.0) |
| spelling | Tapie, Alejandra. Universidad de la República (Uruguay). Facultad de MedicinaPi-Denis, Natalia. Universidad de la República (Uruguay). Facultad de MedicinaSouto, Jorge. Universidad de la República (Uruguay). Facultad de MedicinaVomero, Alejandra. Universidad de la República (Uruguay). Facultad de MedicinaPeluffo, Gabriel. Universidad de la República (Uruguay). Facultad de MedicinaBoidi, María. Universidad de la República (Uruguay). Facultad de MedicinaCiganda, Martín. Universidad de la República (Uruguay). Facultad de Ciencias. Laboratorio de Interacciones MolecularesCurbelo, Nicolás. Universidad de la República (Uruguay). Facultad de MedicinaRaggio, Victor. Universidad de la República (Uruguay). Facultad de MedicinaRoche, Leda. Universidad de la República (Uruguay). Facultad de MedicinaPastro, Lucía. Universidad de la República (Uruguay). Facultad de Ciencias. Laboratorio de Interacciones Moleculares2019-10-02T22:08:19Z2019-10-02T22:08:19Z201720190930Tapie, A. , et al., A novel mutation in the OAR domain of the ARX gene. Clinical Case Reports, 2017, 5: 170-174. doi:10.1002/ccr3.7692050-0904https://hdl.handle.net/20.500.12008/2199610.1002/ccr3.769Mutations 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.Made available in DSpace on 2019-10-02T22:08:19Z (GMT). No. of bitstreams: 5 101002ccr3769.pdf: 1321067 bytes, checksum: 64579841a2ac0804973ca656cb5d105a (MD5) license_text: 38297 bytes, checksum: 4fe6ac477f5a2df0424a5ff1a9bf000c (MD5) license_url: 44 bytes, checksum: a0ebbeafb9d2ec7cbb19d7137ebc392c (MD5) license_rdf: 8067 bytes, checksum: bc1bc9659a4a06e9516479a5adfd8b0e (MD5) license.txt: 4194 bytes, checksum: 7f2e2c17ef6585de66da58d1bfa8b5e1 (MD5) Previous issue date: 2017application/pdfenengJohn WileySons Ltd.Clinical Case Reports, 2017, 5 (2), 170– 174Las obras depositadas en el Repositorio se rigen por la Ordenanza de los Derechos de la Propiedad Intelectual de la Universidad De La República. (Res. Nº 91 de C.D.C. de 8/III/1994 – D.O. 7/IV/1994) y por la Ordenanza del Repositorio Abierto de la Universidad de la República (Res. Nº 16 de C.D.C. de 07/10/2014)info:eu-repo/semantics/openAccessLicencia Creative Commons Atribución (CC –BY 4.0)ARXEpilepsyMental retardationOhtahara syndromeA novel mutation in the OAR domain of the ARX geneArtículoinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionreponame:COLIBRIinstname:Universidad de la Repúblicainstacron:Universidad de la RepúblicaTapie, AlejandraPi-Denis, NataliaSouto Silva, JorgeVomero, AlejandraPeluffo, GabrielBoidi, MaríaCiganda, MartínCurbelo, NicolásRaggio, VictorRoche, LedaPastro, LucíaLICENSElicense.txttext/plain4194http://localhost:8080/xmlui/bitstream/20.500.12008/21996/5/license.txt7f2e2c17ef6585de66da58d1bfa8b5e1MD55CC-LICENSElicense_textapplication/octet-stream38297http://localhost:8080/xmlui/bitstream/20.500.12008/21996/2/license_text4fe6ac477f5a2df0424a5ff1a9bf000cMD52license_urlapplication/octet-stream44http://localhost:8080/xmlui/bitstream/20.500.12008/21996/3/license_urla0ebbeafb9d2ec7cbb19d7137ebc392cMD53license_rdfapplication/octet-stream8067http://localhost:8080/xmlui/bitstream/20.500.12008/21996/4/license_rdfbc1bc9659a4a06e9516479a5adfd8b0eMD54ORIGINAL101002ccr3769.pdfapplication/pdf1321067http://localhost:8080/xmlui/bitstream/20.500.12008/21996/1/101002ccr3769.pdf64579841a2ac0804973ca656cb5d105aMD5120.500.12008/219962021-04-30 12:57:39.754oai:colibri.udelar.edu.uy:20.500.12008/21996VGVybWlub3MgeSBjb25kaWNpb25lcyByZWxhdGl2YXMgYWwgZGVwb3NpdG8gZGUgb2JyYXMKCgpMYXMgb2JyYXMgZGVwb3NpdGFkYXMgZW4gZWwgUmVwb3NpdG9yaW8gc2UgcmlnZW4gcG9yIGxhIE9yZGVuYW56YSBkZSBsb3MgRGVyZWNob3MgZGUgbGEgUHJvcGllZGFkIEludGVsZWN0dWFsICBkZSBsYSBVbml2ZXJzaWRhZCBEZSBMYSBSZXDvv71ibGljYS4gKFJlcy4gTu+/vSA5MSBkZSBDLkQuQy4gZGUgOC9JSUkvMTk5NCDvv70gRC5PLiA3L0lWLzE5OTQpIHkgIHBvciBsYSBPcmRlbmFuemEgZGVsIFJlcG9zaXRvcmlvIEFiaWVydG8gZGUgbGEgVW5pdmVyc2lkYWQgZGUgbGEgUmVw77+9YmxpY2EgKFJlcy4gTu+/vSAxNiBkZSBDLkQuQy4gZGUgMDcvMTAvMjAxNCkuIAoKQWNlcHRhbmRvIGVsIGF1dG9yIGVzdG9zIHTvv71ybWlub3MgeSBjb25kaWNpb25lcyBkZSBkZXDvv71zaXRvIGVuIENPTElCUkksIGxhIFVuaXZlcnNpZGFkIGRlIFJlcO+/vWJsaWNhIHByb2NlZGVy77+9IGE6ICAKCmEpIGFyY2hpdmFyIG3vv71zIGRlIHVuYSBjb3BpYSBkZSBsYSBvYnJhIGVuIGxvcyBzZXJ2aWRvcmVzIGRlIGxhIFVuaXZlcnNpZGFkIGEgbG9zIGVmZWN0b3MgZGUgZ2FyYW50aXphciBhY2Nlc28sIHNlZ3VyaWRhZCB5IHByZXNlcnZhY2nvv71uCmIpIGNvbnZlcnRpciBsYSBvYnJhIGEgb3Ryb3MgZm9ybWF0b3Mgc2kgZnVlcmEgbmVjZXNhcmlvICBwYXJhIGZhY2lsaXRhciBzdSBwcmVzZXJ2YWNp77+9biB5IGFjY2VzaWJpbGlkYWQgc2luIGFsdGVyYXIgc3UgY29udGVuaWRvLgpjKSByZWFsaXphciBsYSBjb211bmljYWNp77+9biBw77+9YmxpY2EgeSBkaXNwb25lciBlbCBhY2Nlc28gbGlicmUgeSBncmF0dWl0byBhIHRyYXbvv71zIGRlIEludGVybmV0IG1lZGlhbnRlIGxhIHB1YmxpY2Fjae+/vW4gZGUgbGEgb2JyYSBiYWpvIGxhIGxpY2VuY2lhIENyZWF0aXZlIENvbW1vbnMgc2VsZWNjaW9uYWRhIHBvciBlbCBwcm9waW8gYXV0b3IuCgoKRW4gY2FzbyBxdWUgZWwgYXV0b3IgaGF5YSBkaWZ1bmRpZG8geSBkYWRvIGEgcHVibGljaWRhZCBhIGxhIG9icmEgZW4gZm9ybWEgcHJldmlhLCAgcG9kcu+/vSBzb2xpY2l0YXIgdW4gcGVy77+9b2RvIGRlIGVtYmFyZ28gc29icmUgbGEgZGlzcG9uaWJpbGlkYWQgcO+/vWJsaWNhIGRlIGxhIG1pc21hLCBlbCBjdWFsIGNvbWVuemFy77+9IGEgcGFydGlyIGRlIGxhIGFjZXB0YWNp77+9biBkZSBlc3RlIGRvY3VtZW50byB5IGhhc3RhIGxhIGZlY2hhIHF1ZSBpbmRpcXVlIC4KCkVsIGF1dG9yIGFzZWd1cmEgcXVlIGxhIG9icmEgbm8gaW5mcmlnZSBuaW5n77+9biBkZXJlY2hvIHNvYnJlIHRlcmNlcm9zLCB5YSBzZWEgZGUgcHJvcGllZGFkIGludGVsZWN0dWFsIG8gY3VhbHF1aWVyIG90cm8uCgpFbCBhdXRvciBnYXJhbnRpemEgcXVlIHNpIGVsIGRvY3VtZW50byBjb250aWVuZSBtYXRlcmlhbGVzIGRlIGxvcyBjdWFsZXMgbm8gdGllbmUgbG9zIGRlcmVjaG9zIGRlIGF1dG9yLCAgaGEgb2J0ZW5pZG8gZWwgcGVybWlzbyBkZWwgcHJvcGlldGFyaW8gZGUgbG9zIGRlcmVjaG9zIGRlIGF1dG9yLCB5IHF1ZSBlc2UgbWF0ZXJpYWwgY3V5b3MgZGVyZWNob3Mgc29uIGRlIHRlcmNlcm9zIGVzdO+/vSBjbGFyYW1lbnRlIGlkZW50aWZpY2FkbyB5IHJlY29ub2NpZG8gZW4gZWwgdGV4dG8gbyBjb250ZW5pZG8gZGVsIGRvY3VtZW50byBkZXBvc2l0YWRvIGVuIGVsIFJlcG9zaXRvcmlvLgoKRW4gb2JyYXMgZGUgYXV0b3Lvv71hIG3vv71sdGlwbGUgL3NlIHByZXN1bWUvIHF1ZSBlbCBhdXRvciBkZXBvc2l0YW50ZSBkZWNsYXJhIHF1ZSBoYSByZWNhYmFkbyBlbCBjb25zZW50aW1pZW50byBkZSB0b2RvcyBsb3MgYXV0b3JlcyBwYXJhIHB1YmxpY2FybGEgZW4gZWwgUmVwb3NpdG9yaW8sIHNpZW5kbyDvv71zdGUgZWwg77+9bmljbyByZXNwb25zYWJsZSBmcmVudGUgYSBjdWFscXVpZXIgdGlwbyBkZSByZWNsYW1hY2nvv71uIGRlIGxvcyBvdHJvcyBjb2F1dG9yZXMuCgpFbCBhdXRvciBzZXLvv70gcmVzcG9uc2FibGUgZGVsIGNvbnRlbmlkbyBkZSBsb3MgZG9jdW1lbnRvcyBxdWUgZGVwb3NpdGEuIExhIFVERUxBUiBubyBzZXLvv70gcmVzcG9uc2FibGUgcG9yIGxhcyBldmVudHVhbGVzIHZpb2xhY2lvbmVzIGFsIGRlcmVjaG8gZGUgcHJvcGllZGFkIGludGVsZWN0dWFsIGVuIHF1ZSBwdWVkYSBpbmN1cnJpciBlbCBhdXRvci4KCkFudGUgY3VhbHF1aWVyIGRlbnVuY2lhIGRlIHZpb2xhY2nvv71uIGRlIGRlcmVjaG9zIGRlIHByb3BpZWRhZCBpbnRlbGVjdHVhbCwgbGEgVURFTEFSICBhZG9wdGFy77+9IHRvZGFzIGxhcyBtZWRpZGFzIG5lY2VzYXJpYXMgcGFyYSBldml0YXIgbGEgY29udGludWFjae+/vW4gZGUgZGljaGEgaW5mcmFjY2nvv71uLCBsYXMgcXVlIHBvZHLvv71uIGluY2x1aXIgZWwgcmV0aXJvIGRlbCBhY2Nlc28gYSBsb3MgY29udGVuaWRvcyB5L28gbWV0YWRhdG9zIGRlbCBkb2N1bWVudG8gcmVzcGVjdGl2by4KCkxhIG9icmEgc2UgcG9uZHLvv70gYSBkaXNwb3NpY2nvv71uIGRlbCBw77+9YmxpY28gYSB0cmF277+9cyBkZSBsYXMgbGljZW5jaWFzIENyZWF0aXZlIENvbW1vbnMsIGVsIGF1dG9yIHBvZHLvv70gc2VsZWNjaW9uYXIgdW5hIGRlIGxhcyA2IGxpY2VuY2lhcyBkaXNwb25pYmxlczoKCgpBdHJpYnVjae+/vW4gKENDIC0gQnkpOiBQZXJtaXRlIHVzYXIgbGEgb2JyYSB5IGdlbmVyYXIgb2JyYXMgZGVyaXZhZGFzLCBpbmNsdXNvIGNvbiBmaW5lcyBjb21lcmNpYWxlcywgc2llbXByZSBxdWUgc2UgcmVjb25vemNhIGFsIGF1dG9yLgoKQXRyaWJ1Y2nvv71uIO+/vSBDb21wYXJ0aXIgSWd1YWwgKENDIC0gQnktU0EpOiBQZXJtaXRlIHVzYXIgbGEgb2JyYSB5IGdlbmVyYXIgb2JyYXMgZGVyaXZhZGFzLCBpbmNsdXNvIGNvbiBmaW5lcyBjb21lcmNpYWxlcywgcGVybyBsYSBkaXN0cmlidWNp77+9biBkZSBsYXMgb2JyYXMgZGVyaXZhZGFzIGRlYmUgaGFjZXJzZSBtZWRpYW50ZSB1bmEgbGljZW5jaWEgaWTvv71udGljYSBhIGxhIGRlIGxhIG9icmEgb3JpZ2luYWwsIHJlY29ub2NpZW5kbyBhIGxvcyBhdXRvcmVzLgoKQXRyaWJ1Y2nvv71uIO+/vSBObyBDb21lcmNpYWwgKENDIC0gQnktTkMpOiBQZXJtaXRlIHVzYXIgbGEgb2JyYSB5IGdlbmVyYXIgb2JyYXMgZGVyaXZhZGFzLCBzaWVtcHJlIHkgY3VhbmRvIGVzb3MgdXNvcyBubyB0ZW5nYW4gZmluZXMgY29tZXJjaWFsZXMsIHJlY29ub2NpZW5kbyBhbCBhdXRvci4KCkF0cmlidWNp77+9biDvv70gU2luIERlcml2YWRhcyAoQ0MgLSBCeS1ORCk6IFBlcm1pdGUgZWwgdXNvIGRlIGxhIG9icmEsIGluY2x1c28gY29uIGZpbmVzIGNvbWVyY2lhbGVzLCBwZXJvIG5vIHNlIHBlcm1pdGUgZ2VuZXJhciBvYnJhcyBkZXJpdmFkYXMsIGRlYmllbmRvIHJlY29ub2NlciBhbCBhdXRvci4KCkF0cmlidWNp77+9biDvv70gTm8gQ29tZXJjaWFsIO+/vSBDb21wYXJ0aXIgSWd1YWwgKENDIO+/vSBCeS1OQy1TQSk6IFBlcm1pdGUgdXNhciBsYSBvYnJhIHkgZ2VuZXJhciBvYnJhcyBkZXJpdmFkYXMsIHNpZW1wcmUgeSBjdWFuZG8gZXNvcyB1c29zIG5vIHRlbmdhbiBmaW5lcyBjb21lcmNpYWxlcyB5IGxhIGRpc3RyaWJ1Y2nvv71uIGRlIGxhcyBvYnJhcyBkZXJpdmFkYXMgc2UgaGFnYSBtZWRpYW50ZSBsaWNlbmNpYSBpZO+/vW50aWNhIGEgbGEgZGUgbGEgb2JyYSBvcmlnaW5hbCwgcmVjb25vY2llbmRvIGEgbG9zIGF1dG9yZXMuCgpBdHJpYnVjae+/vW4g77+9IE5vIENvbWVyY2lhbCDvv70gU2luIERlcml2YWRhcyAoQ0MgLSBCeS1OQy1ORCk6IFBlcm1pdGUgdXNhciBsYSBvYnJhLCBwZXJvIG5vIHNlIHBlcm1pdGUgZ2VuZXJhciBvYnJhcyBkZXJpdmFkYXMgeSBubyBzZSBwZXJtaXRlIHVzbyBjb24gZmluZXMgY29tZXJjaWFsZXMsIGRlYmllbmRvIHJlY29ub2NlciBhbCBhdXRvci4KCkxvcyB1c29zIHByZXZpc3RvcyBlbiBsYXMgbGljZW5jaWFzIGluY2x1eWVuIGxhIGVuYWplbmFjae+/vW4sIHJlcHJvZHVjY2nvv71uLCBjb211bmljYWNp77+9biwgcHVibGljYWNp77+9biwgZGlzdHJpYnVjae+/vW4geSBwdWVzdGEgYSBkaXNwb3NpY2nvv71uIGRlbCBw77+9YmxpY28uIExhIGNyZWFjae+/vW4gZGUgb2JyYXMgZGVyaXZhZGFzIGluY2x1eWUgbGEgYWRhcHRhY2nvv71uLCB0cmFkdWNjae+/vW4geSBlbCByZW1peC4KCkN1YW5kbyBzZSBzZWxlY2Npb25lIHVuYSBsaWNlbmNpYSBxdWUgaGFiaWxpdGUgdXNvcyBjb21lcmNpYWxlcywgZWwgZGVw77+9c2l0byBkZWJlcu+/vSBzZXIgYWNvbXBh77+9YWRvIGRlbCBhdmFsIGRlbCBqZXJhcmNhIG3vv714aW1vIGRlbCBTZXJ2aWNpbyBjb3JyZXNwb25kaWVudGUuCgoKCgoKCgoKUniversidadhttps://udelar.edu.uy/https://www.colibri.udelar.edu.uy/oai/requestmabel.seroubian@seciu.edu.uyUruguayopendoar:47712024-07-25T14:28:05.788760COLIBRI - Universidad de la Repúblicafalse |
| spellingShingle | A novel mutation in the OAR domain of the ARX gene Tapie, Alejandra ARX Epilepsy Mental retardation Ohtahara syndrome |
| status_str | publishedVersion |
| title | A novel mutation in the OAR domain of the ARX gene |
| title_full | A novel mutation in the OAR domain of the ARX gene |
| title_fullStr | A novel mutation in the OAR domain of the ARX gene |
| title_full_unstemmed | A novel mutation in the OAR domain of the ARX gene |
| title_short | A novel mutation in the OAR domain of the ARX gene |
| title_sort | A novel mutation in the OAR domain of the ARX gene |
| topic | ARX Epilepsy Mental retardation Ohtahara syndrome |
| url | https://hdl.handle.net/20.500.12008/21996 |
