Figure 1 | Scientific Reports

Figure 1

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

Figure 1

One reported mutation and three novel ERCC8 mutations identified in a Chinese population. (A) The homozygous mutation c.394_398delTTACA in CS_12. (B) The heterozygous mutation c.2 T > A identified in CS_11. (C) The c.843 + 2 T > A mutation identified in CS_21, and (D) the mutation c.299insA, p.Y100fsX1 identified in CS_06.

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