Article
The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.
Mutation research. Genetic toxicology and environmental mutagenesis - 1 Apr 2020
Castro L P, Sahbatou M, Kehdy F S G, Farias A A, Yurchenko A A, de Souza T A, Rosa R C A, Mendes-Junior C T, Borda V, Munford V, Zanardo É A, Chehimi S N, Kulikowski L D, Aquino M M, Leal T P, Tarazona-Santos E, Chaibub S C, Gener B, Calmels N, Laugel V, Sarasin A, Menck C F M
Abstract excerpt
In central Brazil, in the municipality of Faina (state of Goiás), the small and isolated village of Araras comprises a genetic cluster of xeroderma pigmentosum (XP) patients. The high level of consanguinity and the geographical isolation gave rise to a high frequency of XP patients. Recently, two founder events were identified affecting that community, with two independent mutations at the POLH gene, c.764 + 1 G...
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