Identification of a novel mutation of LAMB3 gene in a lybian patient with hereditary epidermolysis bullosa by whole exome sequencing

N. Laroussi (1) , O. Messaoud (1) , M. Chargui (1) , C.B. Fayala (2) , A. Elahlafi (3) , M. Mokni (4) , A. Bashamboo (5) , Ken Mcelreavey (5) , M.S. Boubaker (1) , H.Y. Youssef (1) , S. Abdelhak (1)

1 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
2 LR11IPT04 - Laboratoire d'Epidémiologie Moléculaire et de Pathologie Expérimentale Appliquée aux Maladies Infectieuses
3 Department of Dermatology
4 Unité de recherche "Troubles Héréditaires de la Kératinisation" UR 24/04
5 Génétique du Développement humain - Human developmental genetics

In this study, we carried out whole exome sequencing (WES) analysis in one Libyan patient in order to identify the molecular aetiology of hereditary epidermolysis bullosa (HEB).

Domaines: Dermatologie; Génétique humaine

N. Laroussi, O. Messaoud, M. Chargui, C.B. Fayala, A. Elahlafi, et al.. Identification of a novel mutation of LAMB3 gene in a lybian patient with hereditary epidermolysis bullosa by whole exome sequencing. Annals of Dermatology, 2017, 29 (2), pp.243-246. ⟨10.5021/ad.2017.29.2.243⟩. ⟨hal-01534741⟩