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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Hindawi Publishing Corporation 2014
Pynciau:
Research Article
Mynediad Ar-lein: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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