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Co-segregation study with CSPI restriction enzyme. Lane 1 is undigested PCR product (310 bp). The two affected individuals (lanes 2 and 3) from family B showing one undigested product of the expected size (310 bp) for the mutant allele plus two restriction digest products (190 and 110 bp) from the normal allele. Unaffected member (lane 4) showing two restriction digest fragments (190 and 110 bp). M is the φX174 RF DNA Hae III marker.
