Article
Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method.
Molecular and cellular biology - 1 May 2004
Shiomi Naoko, Kito Seiji, Oyama Masaki, Matsunaga Tsukasa, Harada Yoshi-Nobu, Ikawa Masahito, Okabe Masaru, Shiomi Tadahiro
Abstract excerpt
In addition to xeroderma pigmentosum (XP), mutations in the human XPG gene cause early onset of Cockayne syndrome (CS) in some patients (XPG/CS). The CS-causing mutations in such patients all produce truncated XPG proteins. To test the hypothesis that the CS phenotype, with characteristics such as growth retardation and a short life span in XPG/CS patients, results from C-terminal truncations, we constructed...
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