Article
Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.
Human molecular genetics - 1 Jun 1998
Matsumura Y, Nishigori C, Yagi T, Imamura S, Takebe H
Abstract excerpt
Xeroderma pigmentosum (XP) complementation group F was first reported in Japan and most XP-F patients reported to date are Japanese. The clinical features of XP-F patients are rather mild, including late onset of skin cancer. Recently a cDNA that corrects the repair deficiency of cultured XP-F cells was isolated. The XPF protein forms a tight complex with ERCC1 and this complex functions as a structure-specific...
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