Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations

Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations

Xeroderma Pigmentosum (XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage to XPC gene, genotyping and direct sequencin...

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Main Authors: Mariem Ben Rekaya, Manel Jerbi, Olfa Messaoud, Ahlem Sabrine Ben Brick, Mohamed Zghal, Chiraz Mbarek, Ashraf Chadli-Debbiche, Meriem Jones, Mourad Mokni, Hamouda Boussen, Mohamed Samir Boubaker, Becima Fazaa, Houda Yacoub-Youssef, Sonia Abdelhak
Format: Article
Language:English
Published: Hindawi Limited 2013-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2013/316286

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