GeneticsThe American Journal of Human GeneticsPeer-reviewed
Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a novel disease-causing mechanism
Emmanuelle Masson, Sandrine Maestri, Valérie Bordeau…·Jian‐Min Chen
The paper identifies a novel disease mechanism where an Alu insertion forms dsRNA structures with pre-existing intronic Alu elements, leading to reduced SPINK1 mRNA expression.
10 citations