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PubMed · 16632093

Germline mutations and gene polymorphism associated with human pancreatitis.

F Ulrich Weiss·Peter Simon·Julia Mayerle·Matthias Kraft·Markus M Lerch
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Abstract

A wide range of mutations and polymorphisms in genes that relate to pancreatic function seem to be involved in the development of pancreatitis. Some of these genetic alterations lead to disease phenotypes with unequivocal mendelian inheritance patterns, whereas others seem to act as modifier genes in conjunction with environ-mental or, as yet unidentified, genetic cofactors. This article reviews germline changes in the genes for trypsin, pancreatic secretory trypsin inhibitor, the cystic fibrosis conductance regulator, lipid metabolism proteins, inflammatory mediators for cytokines, and cathepsin B.

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Carrier ProteinsCathepsin BCystic Fibrosis Transmembrane Conductance RegulatorGenetic Predisposition to DiseaseGerm-Line MutationHumansPancreatitisPoint MutationPolymorphism, GeneticTrypsinTrypsin Inhibitor, Kazal PancreaticTrypsinogenJournal ArticleReview

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F Ulrich Weiss, Peter Simon, Julia Mayerle, Matthias Kraft, Markus M Lerch. 2006. Germline mutations and gene polymorphism associated with human pancreatitis.. https://doi.org/10.1016/j.ecl.2006.02.001

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