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A: Determination of bi-allelic inactivation by direct sequence analysis of blood, R+ cells, and A+ cells. The mutation site is indicated by a vertical arrow. A+ cell sequencing revealed the mutation in TSC2 exon 18 at residue 2110. Representative PCR analysis of chromosome 16p13.3 microsatellite markers D16S3024 (B) and D16S3394 (C) in blood, R+ cells, and A+ cells.
