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"Characterization of molecular defects in xeroderma pigmentosum group C." |
Li L, Bales ES, Peterson CA, Legerski RJ |
Published Dec. 1, 1993 in Nat Genet volume 5 .
Pubmed ID: 8298653
Abstract:
| Xeroderma pigmentosum (XP) is a rare autosomal recessive disease of humans characterized by an accelerated chronic degeneration of sun-exposed areas of the body, including an elevated risk of developing cancers of the skin. We recently reported the isolation of a gene XPCC that complements the repair deficiency of cultured XP-C cells. Here we report the results of a characterization of XPCC at the nucleotide level in five XP-C cell lines. Each cell line exhibited a unique mutation that correlated well with the cellular DNA repair deficiency and the clinical severity of the disease. These results extend our previous observations and indicate that defects in XPCC cause Xeroderma pigmentosum group C. |
This publication refers to following REPAIRtoire entries:
| Proteins |
Last modification of this entry: Oct. 6, 2010
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