Allele-specific PCR for mutant alleles detected in mosaic patients. PCR was performed with mutant or normal allele-specific primers and the corresponding reverse primer (see Table S1). Dilution series were made by mixing patients' DNA and DNA from an individual who was proved not to have latent mosaicism of CIAS1. Representative results of mosaic patients and 100 healthy volunteers (HV) are shown. NC indicates negative control.