RBFOX1 and RBFOX3 mutations in rolandic epilepsy.
Partial deletions of the gene encoding the neuronal splicing regulator RBFOX1 have been reported in a range of neurodevelopmental diseases, including idiopathic generalized epilepsy. The RBFOX1 protein and its homologues (RBFOX2 and RBFOX3) regulate alternative splicing of many neuronal transcripts...
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Autores principales: | , , , , , , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
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Public Library of Science (PLoS)
2013
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Materias: | |
Acceso en línea: | https://doaj.org/article/c75163a24f994194b80d2d5d06936096 |
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