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Figure 4 PCR on Complementary Deoxyribonucleic Acid

Reverse transcription polymerase chain reaction (RT-PCR) on ribonucleic acid (RNA) extracted from fibroblasts of patient III-12 and from lymphocytes of a control individual. The RNA of the patient show, in addition to the normal-sized band, a shorter product that after sequencing proved to have lost both exons –1 and +1. The normal-sized product is weaker, owing to the fact that shorter amplicons are more abundantly amplified.