Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa.

R MittwollenS WohlfartJ ParkE GroschCristina HasE HohenesterH SchneiderJohanna Hammersen

Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2020)

Differential LAMB3 mRNA splicing in the patients may explain the disparate JEB phenotype. By elucidating the regulation of laminin-332 gene expression, these findings may contribute to the development of therapeutic strategies for JEB and might help to understand phenotype modification by splice-site mutations in other hereditary diseases.

Keyphrases

gene expression
end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
dna methylation
prognostic factors
patient reported outcomes
patient reported