Blar i Faculty of Medicine på forfatter "Cnop, Miriam"
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The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity
Svanbring, Anny Gravdal; Xiao, Xunjun; Cnop, Miriam; Jellas, Khadija el; Johansson, Stefan; Njølstad, Pål Rasmus; Lowe, Mark E.; Johansson, Bente Berg; Molven, Anders; Fjeld, Karianne (Journal article; Peer reviewed, 2021)Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which is specifically expressed in pancreatic acinar ...