Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

@article{Rder2006MutationsIT,
  title={Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction},
  author={H. R{\ae}der and S. Johansson and P. I. Holm and I. Haldorsen and E. Mas and V. Sbarra and I. Nermoen and S. A. Eide and L. Grevle and L. Bj{\o}rkhaug and J. Sagen and L. Aksnes and O. S{\o}vik and D. Lombardo and A. Molven and P. Nj{\o}lstad},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={54-62}
}
Dysfunction of the exocrine pancreas is observed in diabetes, but links between concurrent exocrine and endocrine pancreatic disease and contributing genetic factors are poorly characterized. We studied two families with diabetes and exocrine pancreatic dysfunction by genetic, physiological and in vitro functional studies. A genome-wide screen in Family 1 linked diabetes to chromosome 9q34 (maximal lod score 5.07). Using fecal elastase deficiency as a marker of exocrine pancreatic dysfunction… Expand
Pancreatic Lipomatosis Is a Structural Marker in Nondiabetic Children With Mutations in Carboxyl-Ester Lipase
Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis.
  • K. Fjeld, E. Masson, +18 authors A. Molven
  • Medicine
  • Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
  • 2020
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