Fig. 3 | Genetics in Medicine

Fig. 3

From: Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

Fig. 3

Clinical confirmation in the child and mother. The region of the XIAP gene surrounding the mutation in both the child and the mother was sequenced using the BigDye Terminator Cycle Sequencing kit and analyzed on an ABI3730XL automated DNA sequencer. The Sanger sequence trace from a normal human control is shown at the top. Hemizygosity at the candidate locus is confirmed in the child (middle panel). The mother is heterozygous at this locus (bottom panel).

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