Allele-Specific Expression Based on the c.3124G>A Missense Mutation in Case R00-394
On the left, the sequence trace of an amplified genomic DNA fragment containing the c.3124A missense mutation is shown. On the right, the sequence trace of an amplified cDNA fragment containing the same region is shown, demonstrating the absence of the c.3124G nucleotide derived from the c.1786dupG allele.