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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3741899/
https://www.ncbi.nlm.nih.gov/pubmed/23984341
http://dx.doi.org/10.1155/2013/316286

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