Combination of Synonymous and Missense Mutations in <i>JAK3</i> Gene Contributes to Severe Combined Immunodeficiency in One Child

<div>Splicing study of JAK3 c.1914G&gt;T by minigene assay. (a) Agarose gel electrophoresis results of RT-PCR for the plasmid expression: the expected wild-type fragment is 546 bp, and the mutation-type fragment is 418 bp. (b) The Sanger sequencing of RT-PCR for the plasmid expression. (c) Schematic of splicing for JAK3 c.1914G&gt;T. WT: wild type; MT: mutation type.</div>

Human Mutation

fig2

Figure 2

Figure 2: Combination of Synonymous and Missense Mutations in <i>JAK3</i> Gene Contributes to Severe Combined Immunodeficiency in One Child 

Human Mutation

Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child

Figure 2