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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Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2013
Teme:
Letter to the Editor
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3584738/
https://ncbi.nlm.nih.gov/pubmed/23410226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-39-12
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