Article
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
Cancer research - 1 Apr 2000
Chavanne F, Broughton B C, Pietra D, Nardo T, Browitt A, Lehmann A R, Stefanini M
Abstract excerpt
Xeroderma pigmentosum (XP)-C is one of the more common complementation groups of XP, but causative mutations have thus far been reported for only six cases (S. G. Khan et al., J. Investig. Dermatol., 115: 791-796, 1998; L. Li et al., Nat. Genet., 5: 413-417, 1993). We have now extended this analysis by investigating the genomic and coding sequence of the XPC gene, the level of expression of the XPC transcript and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.