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DOCK8 expression data for mutations in patients from families 1 and 3. A) PCR amplification of exons 19 to 24 of DOCK8 from cDNA shows a smaller product from patient 1-1, which corresponds to an aberrantly spliced mRNA. B) Immunoblotting shows destabilized DOCK8 protein in 293T cells that have been transiently transfected with a plasmid encoding the full-length mutant (C1447R), as compared to wildtype, DOCK8. Patients 3-1 and 3-2 only express this mutant form of DOCK8.
