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Identification of Novel JAK3 Mutations by Whole-Exome Sequencing in a Korean Boy With Severe Combined Immunodeficiency

Shim YJ1, Ha JS2

1Department of Pediatrics, Institute for Cancer Research, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Korea
2Department of Laboratory Medicine, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Korea

J Investig Allergol Clin Immunol 2017; Vol 27(3) : 187-189
doi: 10.18176/jiaci.0151

Key words: Exome sequencing, Next generation sequencing, Janus kinase 3, Primary immunodeficiency, Severe combined immunodeficiency.