The R156H variation in IL-12Rβ1 is not a mutation

Palamaro et al. describe a child with recurrent bronchopneumonia and very high IgE levels in which a variation, R156H, was found in the IL12RB1 gene that encodes the IL-12Rβ1 chain. Based on the absence of this variation in 50 unrelated individuals they conclude it is a mutation. We (van de Vosse an...

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Detalles Bibliográficos
Autores principales: van de Vosse, Esther, van Dissel, Jaap T, Palamaro, Loredana, Giardino, Giuliana, Santamaria, Francesca, Romano, Rosa, Fusco, Anna, Montella, Silvia, Salerno, Mariacarolina, Ursini, Matilde Valeria, Pignata, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584738/
https://www.ncbi.nlm.nih.gov/pubmed/23410226
http://dx.doi.org/10.1186/1824-7288-39-12

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584738/
https://www.ncbi.nlm.nih.gov/pubmed/23410226
http://dx.doi.org/10.1186/1824-7288-39-12

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