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Hum Genet. 1980;54(2):177-82.

Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum.

Abstract

UV-repair activity was studied in two sibs affected by XP showing different clinical symptoms. Complementation studies indicated that both patients fit into complementation group A. The levels of UV-induced 3H-thymidine incorporation, in fibroblasts and in lymphocytes, are different in the two patients: residual level of repair DNA synthesis in the sister is higher than in the brother. In one of the cell samples analyzed UDS analysis showed that in the sister a low proportion of cells with normal repair synthesis is present.

PMID:
7390491
[Indexed for MEDLINE]
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