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Download Figure 2 Representation of the steps required for DNA sequence
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Supplementary Figure 1 Representation of the steps required for DNA sequence analysis to detect a germline mutation. Family members of the index case, that is the proband (arrow), are ascertained. After genetic counseling and obtaining informed consent, venous blood samples are collected and leucocyte DNA extracted and used with gene-specific primers for the polymerase chain reaction (PCR) amplification of genomic DNA. The PCR products are separated by agarose gel electrophoresis and purified. The DNA sequences of the PCR products are determined by Taq polymerase cycle sequencing and the chromatograms resolved using an automated laser detection system (e.g. a DNA sequencer).