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Table 3 Strongly reduced recovery of DNA synthesis after 3J/m2 of UV-irradiation in patients with CS compared to positive controls (known CS patients) and negative controls (normal individuals).

From: Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

Patients

% of Recovery of DNA synthesis at 17 hrs after UV (3J/m2)

 

Our patients

Known CS patients

Normal controls

Patient (1)

13

14

80

Patient (3)

13

15

88

Patient (5)

15

22

74

Patient (7)

24

26

67

  1. It can be noticed that normal cells can recover 67 to 88% of DNA compared to only 13-24% in patients with CS.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172