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pro vyhledávání: '"Aurélie Mercadier"'
Autor:
Julien Coutier, Manon Bonnette, Sabrina Martineau, Aurélie Mercadier, Sophie Domingues, Manoubia Saidani, Margot Jarrige, Hélène Polveche, Annabelle Darle, Nathalie Holic, Smail Hadj-Rabia, Christine Bodemer, Gilles Lemaitre, Cécile Martinat, Christine Baldeschi
Publikováno v:
Journal of Investigative Dermatology. 142:2695-2705.e11
Epidermolysis bullosa simplex (EBS), an autosomal dominant skin disorder, is characterized by skin fragility. Genetically, the majority of cases are related to missense sequence variations in two keratin genes K5 or K14, leading to cytolysis of basal