Article
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
The Journal of investigative dermatology - 1 Feb 2002
Lalle Philippe, Nouspikel Thierry, Constantinou Angelos, Thorel Fabrizio, Clarkson Stuart G
Abstract excerpt
Of the eight human genes implicated in xeroderma pigmentosum, defects in XPG produce some of the most clinically diverse symptoms. These range from mild freckling to severe skeletal and neurologic abnormalities characteristic of Cockayne syndrome. Mildly affected xeroderma pigmentosum group G patients have diminished XPG endonuclease activity in nucleotide excision repair, whereas severely affected xeroderma...
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