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2.
Figure  3

Figure 3. From: Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs.

Analysis of deletions and duplication events by quantitative PCR. Representative electropherograms (left) and dosage quotient values (right) for 3 DNA samples analyzed by quantitative PCR: control sample (top); ONK102: 34-kb deletion in TSC2 identified by long-range PCR (middle); ONK151: deletion of TSC2 exons 25, 26, and 36 identified using quantitative PCR (bottom).

Sandra L. Dabora, et al. Am J Hum Genet. 2001 January;68(1):64-80.
3.
Figure  2

Figure 2. From: Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs.

Map of the sites of small mutations in TSC1 and TSC2. Proportional drawings (boxes) of all of the exons of TSC1 and TSC2 are shown. Intron regions are not drawn to scale and are expanded only when a mutation is present. Mutation symbols are x = nonsense; ▪ = splice site; ▵ = deletion; ▿ = insertion; ○ = missense; and ▴ = in-frame deletion. A line separates mutations occurring at nearby but not identical nucleotide positions.

Sandra L. Dabora, et al. Am J Hum Genet. 2001 January;68(1):64-80.

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