Article

<i>CLN3</i> transcript complexity revealed by long-read RNA sequencing analysis

2023-10-13

Abstract excerpt

<h4>Background</h4> Batten disease is a group of rare inherited neurodegenerative diseases. Juvenile CLN3 disease is the most prevalent type, and the most common mutation shared by most patients is the “1-kb” deletion which removes two internal coding exons (7 and 8) in CLN3 . Previously, we identified two transcripts in patient fibroblasts homozygous for the “1-kb” deletion: the “major” and “minor” transcripts....

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Literature Corpus work: 551c08e0-f788-5c9d-8ff5-1bb055d8a5c6
DOI: 10.1101/2023.10.12.562062

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