Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile

Abstract Objective Xeroderma pigmentosum (XP) is a genetically and clinically heterogeneous disease, associated with an inherited defect in one of eight different genes (XPA to XPG and XPV). In addition to the early onset of the skin manifestations, the XP group A is marked by the presence of a mild...

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Bibliographic Details
Published in:BMC Research Notes
Main Authors: Zineb Kindil, Mohamed Amine Senhaji, Amina Bakhchane, Hicham Charoute, Soumia Chihab, Sellama Nadifi, Abdelhamid Barakat
Format: Article
Language:English
Published: BMC 2017-12-01
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13104-017-3042-6