FIGURE 6
Germ line analysis of the TSC2 gene with leukocytes. A, polymerase chain reaction–single-strand conformational polymorphism analysis detected a mutation on Exon 9 of the TSC2 gene in the present patient (lane 2, arrowhead) as compared with a control (lane 1) and her son (lane 3). B, direct DNA sequencing shows a deletion of G or g between Exon 9 and Intron 9 of the TSC2 gene. C, schematic representation.
