Article
Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.
Carcinogenesis - 1 Aug 1994
Mezzina M, Eveno E, Chevallier-Lagente O, Benoit A, Carreau M, Vermeulen W, Hoeijmakers J H, Stefanini M, Lehmann A R, Weber C A
Abstract excerpt
Trichothiodystrophy (TTD) is a rare genetic disease with heterogeneous clinical features associated with specific deficiencies in nucleotide excision repair. Patients have brittle hair due to a reduced content of cysteine-rich matrix proteins. About 50% of the cases reported in the literature are photosensitive. In these patients an altered cellular response to UV, due to a specific deficiency in nucleotide...
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