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 (p.L638=). (a) The Sanger sequencing of RT-PCR products based on peripheral blood samples of the proband. (b) The Sanger sequencing of the purified PCR products after electrophoresis on agarose gels. (c) Schematic of splicing sequence for JAK3 c.1914G&gt;T; gray nucleotides were the deletion of exon 14 (128 bp), and new triplet codons were marked by subscript black and dashed red lines.</div>

Human Mutation

fig5

Figure 5

Figure 5: 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 5