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

بواسطة Linder B., Hirmer A., Gal A., Rüther K., Bolz H.J., Winkler C., Laggerbauer B., Fischer U.
منشور في 2018

Systemic splicing factor deficiency causes tissue-specific defects: A zebrafish model for retinitis pigmentosa

بواسطة Linder, B., Dill, H., Hirmer, A., Brocher, J., Lee, G.P., Mathavan, S., Bolz, H.J., Winkler, C., Laggerbauer, B., Fischer, U.
منشور في 2014