Novel frameshift variants expand the map of the genetic defects in IRF2BP2

BACKGROUND: At present, the knowledge about disease-causing mutations in IRF2BP2 is very limited because only a few patients affected by this condition have been reported. As previous studies have described, the haploinsufficiency of this interferon transcriptional corepressors leads to the developm...

Descripción completa

Detalles Bibliográficos
Autores principales: García-Aznar, José María, Maneiro Pampín, Emilia, García Ramos, Maite, Acuña Pérez, María José, Paz Gandiaga, Nerea, Minguell Domingo, Laura, Calavia, Olga, Soler-Palacin, Pere, Colobran, Roger, Novoa Bolívar, Erika M., Ocejo Vinyals, Javier Gonzalo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593445/
https://www.ncbi.nlm.nih.gov/pubmed/37876937
http://dx.doi.org/10.3389/fimmu.2023.1279171

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593445/
https://www.ncbi.nlm.nih.gov/pubmed/37876937
http://dx.doi.org/10.3389/fimmu.2023.1279171

Ejemplares similares