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Titel:

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

Dokumenttyp:
Journal Article; Journal Article
Autor(en):
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, Pawe?; Torsvik, Janniche; Scholz, Markus; Tjora, Erling; Férec, Claude; Witt, Heiko; Lerch, Markus M; Njølstad, Pål R; Johansson, Stefan; Molven, Anders
Abstract:
Carboxyl ester lipase is a digestive pancreatic enzyme encoded by the CEL gene. Mutations in CEL cause maturity-onset diabetes of the young as well as pancreatic exocrine dysfunction. Here we describe a hybrid allele (CEL-HYB) originating from a crossover between CEL and its neighboring pseudogene, CELP. In a discovery series of familial chronic pancreatitis cases, we observed CEL-HYB in 14.1% (10/71) of cases compared to 1.0% (5/478) of controls (odds ratio (OR) = 15.5; 95% confidence interval...     »
Zeitschriftentitel:
Nat Genet
Jahr:
2015
Band / Volume:
47
Heft / Issue:
5
Seitenangaben Beitrag:
518-22
Sprache:
eng
Volltext / DOI:
doi:10.1038/ng.3249
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/25774637
Print-ISSN:
1061-4036
TUM Einrichtung:
Else Kröner-Fresenius-Zentrum für Ernährungsmedizin - Klinik für Ernährungsmedizin
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