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(A,B) Electropherograms of ADA2 pathogenic mutations identified in the family. (C) Family pedigree, both unaffected parents are carriers of these mutations. WT indicated wild-type or non-mutated ADA2 allele. (D) cDNA sequencing shows that the p.V458D mutation appears heterozygous at the genomic DNA and as a homozygous mutant allele when transcribed in cDNA indicating null expression of the second allele due to the c.973-2A>G mutation.
