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

Published 2016 View Full Article

Authors

Keywords

Pseudoexon, Fabry disease, GLA, hnRNP A1 hnRNP A2/B1, hnRNP F/H, Splice switching oligonucleotide (SSO), ESE, ESS

Journal

MOLECULAR GENETICS AND METABOLISM

Volume 119, Issue 3, Pages 258-269

Publisher

Elsevier BV

Online

2016-09-03

DOI

10.1016/j.ymgme.2016.08.007

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