Article
Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.
BioMed research international - 1 Jan 2013
Ben Rekaya Mariem, Jerbi Manel, Messaoud Olfa, Ben Brick Ahlem Sabrine, Zghal Mohamed, Mbarek Chiraz, Chadli-Debbiche Ashraf, Jones Meriem, Mokni Mourad, Boussen Hamouda, Boubaker Mohamed Samir, Fazaa Becima, Yacoub-Youssef Houda, Abdelhak Sonia
Abstract excerpt
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 sequencing of XPC gene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR....
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