Interestingly, Jiang et al. demonstrated that reverse transcription polymerase chain reaction (RT-PCR) using mRNA extracted from PBMCs successfully detects splice site mutations and elucidates the genetic effect of aberrant splicing in patients with DEB [7,8]; however, no other studies have replicated RT-PCR with PBMCs for COL7A1 mutational analysis. This evidence concerns the gene COL7A1 and Dystrophic epidermolysis bullosa.