Targeted long-read RNA sequencing reveals the complexity of CLN3 transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 disease
Christopher J. Minnis, Hao-Yu Zhang, Emil Karl Gustavsson, Jasmaine Lee, Claire Anderson, Emily Gardner, Angela Schulz, Miriam Nickel, Gavin Arno, Neringa Jurkutė, Andrew R. Webster, Nicola Gammaldi, Filippo Maria Santorelli, Paul Gissen, Philippa B. Mills, , Sara Mole
The paper uses long-read RNA sequencing to analyze CLN3 transcription complexity and the impact of a common 1-kb deletion in juvenile CLN3 disease, revealing multiple transcripts and isoforms.
bioRxiv · Apr 24, 2025 · PreprintGenetics