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A nonsense mutation in IKBKB causes combined immunodeficiency

Identification of the molecular etiologies of primary immunodeficiencies has led to important insights into the development and function of the immune system. We report here the cause of combined immunodeficiency in 4 patients from 2 different consanguineous Qatari families with similar clinical and...

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Bibliografiske detaljer
Udgivet i:Blood
Main Authors: Mousallem, Talal, Yang, Jialong, Urban, Thomas J., Wang, Hongxia, Adeli, Mehdi, Parrott, Roberta E., Roberts, Joseph L., Goldstein, David B., Buckley, Rebecca H., Zhong, Xiao-Ping
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Hematology 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4260362/
https://ncbi.nlm.nih.gov/pubmed/25139357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-04-571265
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