In:
Pediatrics, American Academy of Pediatrics (AAP), Vol. 60, No. 2 ( 1977-08-01), p. 135-139
Abstract:
Two unrelated children, a boy 2½ years old and a girl 4 years old, were affected with the cachectic dwarfism of Cockayne syndrome. Fibroblast cultures derived from these patients exhibited increased sensitivity to ultraviolet (UV) light, but not to x-irradiation, as measured by colony-forming ability. In both Cockayne fibroblast cultures, the rate of removal of thymidine dimer from the irradiated cellular DNA was normal. This demonstration of a cellular defect in Cockayne cells suggests that there may be an enzymatic defect in the repair of UV light-induced damage.
Type of Medium:
Online Resource
ISSN:
0031-4005
,
1098-4275
DOI:
10.1542/peds.60.2.135
Language:
English
Publisher:
American Academy of Pediatrics (AAP)
Publication Date:
1977
detail.hit.zdb_id:
1477004-0
Permalink