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. 2007 Mar 22;117(4):931–943. doi: 10.1172/JCI29031

Figure 9. Aberrant CADPS2 splicing in autistic patients.

Figure 9

(A and B) RT-PCR analysis of CADPS2 mRNA in blood from autistic patients (a1–a16) (A) and healthy control subjects (c1–c24) (B). A single major band (661 bp) is apparent in the control individuals. An additional band (381 bp) that resulted from skipping of exon 3 was detected in patients a2, a4, a5, and a13. The primers used are indicated on the corresponding exons by arrows. M, 100-bp ladder molecular size marker (from 200 bp at the bottom to 1000 bp at the top). (C) Sequencing pattern of the aberrant RT-PCR product from patient a4. The arrows indicate exon 2–exon 4 in the frame without exon 3. The same results were obtained in 3 other patients (a2, a5, and a13).