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
Palhais, Bruno, Dembic, Maja, Sabaratnam, Rugivan, Nielsen, Kira S., Doktor, Thomas Koed, Bruun, Gitte Hoffmann, Andresen, Brage Storstein
Published in Molecular genetics and metabolism (01.11.2016)
Published in Molecular genetics and metabolism (01.11.2016)
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