Article
The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.
Cancer research - 15 Jan 2000
Berneburg M, Clingen P H, Harcourt S A, Lowe J E, Taylor E M, Green M H, Krutmann J, Arlett C F, Lehmann A R
Abstract excerpt
The DNA repair-deficient genetic disorders xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) can both result from mutations in the XPD gene, the sites of the mutations differing between the two disorders. The hallmarks of XP are multiple pigmentation changes in the skin and a greatly elevated frequency of skin cancers, characteristics that are not seen in TTD. XP-D and most TTD patients have reduced levels...
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