A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy

Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous fa...

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Detalles Bibliográficos
Autores principales: Ben Rekaya, Mariem, Laroussi, Nadia, Messaoud, Olfa, Jones, Mariem, Jerbi, Manel, Naouali, Chokri, Bouyacoub, Yosra, Chargui, Mariem, Kefi, Rym, Fazaa, Becima, Boubaker, Mohamed Samir, Boussen, Hamouda, Mokni, Mourad, Abdelhak, Sonia, Zghal, Mohamed, Khaled, Aida, Yacoub-Youssef, Houda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024419/
https://www.ncbi.nlm.nih.gov/pubmed/24877075
http://dx.doi.org/10.1155/2014/256245

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