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A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis

Carboxyl-ester lipase is a digestive pancreatic enzyme encoded by the highly polymorphic CEL gene(1). Mutations in CEL cause maturity-onset diabetes of the young (MODY) with pancreatic exocrine dysfunction(2). Here we identified a hybrid allele (CEL-HYB), originating from a crossover between CEL and...

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Detalles Bibliográficos
Autores principales: Fjeld, Karianne, Weiss, Frank Ulrich, Lasher, Denise, Rosendahl, Jonas, Chen, Jian-Min, Johansson, Bente B., Kirsten, Holger, Ruffert, Claudia, Masson, Emmanuelle, Steine, Solrun J., Bugert, Peter, Cnop, Miriam, Grützmann, Robert, Mayerle, Julia, Mössner, Joachim, Ringdal, Monika, Schulz, Hans-Ulrich, Sendler, Matthias, Simon, Peter, Sztromwasser, Paweł, Torsvik, Janniche, Scholz, Markus, Tjora, Erling, Férec, Claude, Witt, Heiko, Lerch, Markus M., Njølstad, Pål R., Johansson, Stefan, Molven, Anders
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321495/
https://www.ncbi.nlm.nih.gov/pubmed/25774637
http://dx.doi.org/10.1038/ng.3249