Article
A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa
European journal of dermatology : EJD - 1 Sept 2022
Liang Bo, Meng Dedi, Cao Yan, Zhang Dianan, Zhou Junzhong, Chen Mengyun, Chen Gang, Huang Hequn
Abstract excerpt
Background: Junctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons of the associated genes. This report describes a novel variant located at a splice site. Objectives: To confirm the diagnosis of the JEB family and identify the pathogenic variant. Materials & Methods: We collected clinical data and DNA from the members of the...
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