The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity

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 cells and encodes the digestive enzyme carboxyl ester lipase. Rare single-base de...

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Detalles Bibliográficos
Autores principales: Gravdal, Anny, Xiao, Xunjun, Cnop, Miriam, El Jellas, Khadija, Johansson, Stefan, Njølstad, Pål R., Lowe, Mark E., Johansson, Bente B., Molven, Anders, Fjeld, Karianne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8692231/
https://www.ncbi.nlm.nih.gov/pubmed/33862081
http://dx.doi.org/10.1016/j.jbc.2021.100661

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