Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa.

by Bastian Linder, Anja Hirmer, Andreas Gal, Klaus Rüther, Hanno Jörn Bolz, Christoph Winkler, Bernhard Laggerbauer, Utz Fischer
Published 2014-01-01