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The prevalent deep intronic c. 639 + 919 G > A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

Transcriptional RegulationFabry DiseaseGenetic DisorderGeneticsPseudoexon ActivationA Gla MutationPathologyMolecular GeneticsDisease Gene IdentificationGene ExpressionMedicineSplicing Variant