A) Restriction fragment length polymorphism (RFLP) assay. Exon 16 of the ATP7A gene was amplified using specific primers, and the PCR product was digested with HinfI. The c.3288 C > T mutation introduces a HinfI restriction site that divides the 107 bp fragment into two fragments of 79 and 28 bp. ud PCR, undigested PCR. B) DNA sequence of part of the ATP7A gene (exon 16) from the patient and from a normal control; the mutation is shown in red.
León-García et al. BMC Pediatrics 2012 12:150 doi:10.1186/1471-2431-12-150