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[Xeroderma pigmentosum with normal excision-repair capacity and decreased U-V tolerance (author's transl)]
Wiener Klinische Wochenschrift
|April 30, 1976
Abstract:
Unscheduled DNA synthesis was investigated in the peripheral lymphocytes of a 31-year-old woman suffering from Xeroderma pigmentosum, clinically manifest since early childhood. The present data indicate a normal level of excision repair capacity, though U-V sensitivity was increased. The present case is considered to be a new variant of the syndrome Xeroderma pigmentosum, demonstrating once more its genetic heterogeneity. The question of a relationship between the observed data and the known occurrence of carcinoma in the light-exposed skin areas remains to be answered.