Table 2 The types and frequency of ERCC8 mutations.

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

The types of ERCC8 mutation (26)

The frequency of each mutation

E4 rearrangement mutation (18)

69.23%

c.394_398delTTACA, p.L132NfsX6 (3)

11.53%

c.299insA, p.Y100X (1)

3.85%

c.2 T > A, p.M1L (1)

3.85%

c.843 + 2 T > C (1)

3.85%

undetected mutation (2)

7.69%

Back to article page