A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
Sebastian Ochoa, Amy P. Hsu, Andrew J. Oler, Dhaneshwar Kumar, Daniel Chauss, Jan Piet van Hamburg, Gustaaf G. van Laar, Vasileios Oikonomou, Sundar Ganesan, Elise M.N. Ferré, Monica M. Schmitt, Tom DiMaggio, Princess Barber, Gregory M. Constantine, Lindsey B. Rosen, Paul G. Auwaerter, Bhumika Gandhi, Jennifer L. Miller, Rachel Eisenberg, Arye RubinsteinEdith Schussler, Erjola Balliu, Vandana Shashi, Olaf Neth, Peter Olbrich, Kim My Le, Nanni Mamia, Saila Laakso, Pasi I. Nevalainen, Juha Grönholm, Mikko R.J. Seppänen, Louis Boon, Gulbu Uzel, Luis M. Franco, Theo Heller, Karen K. Winer, Rajarshi Ghosh, Bryce A. Seifert, Magdalena Walkiewicz, Luigi D. Notarangelo, Qing Zhou, Ivona Askentijevich, William Gahl, Cliffton L. Dalgard, Lalith Perera, Behdad Afzali, Sander W. Tas, Steven M. Holland, Michail S. Lionakis
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