CLN3 transcript complexity revealed by long-read RNA sequencing analysis

• Principais autores: Hao-Yu Zhang (Autor), Christopher Minnis (Autor), Emil Gustavsson (Autor), Mina Ryten (Autor), Sara E. Mole (Autor)
• Formato: Livro
• Publicado em: BMC, 2024-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Batten disease is a group of rare inherited neurodegenerative diseases. Juvenile CLN3 disease is the most prevalent type, and the most common pathogenic variant shared by most patients is the "1-kb" deletion which removes two internal coding exons (7 and 8) in CLN3. Pre...