Lesson from hypomorphic recombination-activating gene (RAG) mutations: why asymptomatic siblings should also be tested
C Schuetz, U Pannicke, EM Jacobsen… - Journal of allergy and …, 2014 - jacionline.org
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DF, et al. Development of a routine newborn screening protocol for severe combined
immunodeficiency. J Allergy Clin Immunol 2009; 124: 522-7. 2. Borte S, von Dobeln U, Fasth
A, Wang N, Janzi M, Winiarski J, et al. Neonatal screening for severe primary
immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 2012; 119:
2552-5. 3. Borte S, Wang N, Oskarsdottir S, von Dobeln U, Hammarstrom L. Newborn …