Figure 2 | Scientific Reports

Figure 2

From: Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

Figure 2

Schematic diagram of the exon 4 rearrangement mutation. (A) Wild-type ERCC8; (B) the affected genetic region. (C) The exon 4 rearrangement mutation in ERCC8. (D) Sequence analysis of the two breakpoints. Note that the red bars show two deletions consisting of a 3368-bp region in exon 4 (c.275 + 703 to c.399 + 347) and a 555-bp region in intron 4 (c.399 + 2008 to c.399 + 2558). The blue arrow indicates the 1660-bp inversion region in intron 4 (c.399 + 348 to c.399 + 2007) and the green bar shows the 8-bp insertion at the 5′ end of breakpoint.

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