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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4024419/
https://ncbi.nlm.nih.gov/pubmed/24877075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/256245
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