Article
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.
The Journal of investigative dermatology - 1 Aug 2001
Gozukara E M, Khan S G, Metin A, Emmert S, Busch D B, Shahlavi T, Coleman D M, Miller M, Chinsomboon N, Stefanini M, Kraemer K H
Abstract excerpt
Xeroderma pigmentosum family G from Van, Turkey had two severely affected children: a son with multiple skin cancers who died at age 10 (XP67TMA), and an 8 y old daughter who began developing skin cancer before 3 y of age (XP68TMA). XP67TMA and XP68TMA cells were hypersensitive to killing by ultraviolet and the post-ultraviolet DNA repair level was 12-16% of normal. Host cell reactivation of an...
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