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المؤلفون: Andreas R. Janecke, Insha Rasool, Eva Mildenberger, Sandhya S. Visweswariah, Antje Ballauff, Heiko Witt, Laurent Michaud, Peter Heinz-Erian, Andreas Müller, Christian Hülstrunk, Bart G. P. Koot, Irene Fuchs, Heinz Zoller, Britt-Sabina Petersen, Štefan Rosipal, Thomas Müller, Andre Franke, Julia Vodopiutz
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Gastroenterology
المصدر: Gut, 65(8), 1306-1313. BMJ Publishing Group
Gutمصطلحات موضوعية: Diarrhea, Male, 0301 basic medicine, medicine.medical_specialty, Receptors, Peptide, Colon, Guanylin, Guanosine Monophosphate, Mutation, Missense, Receptors, Enterotoxin, GUANYLATE CYCLASE, Biology, CHRONIC DIARRHOEA, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, Germline mutation, Internal medicine, BACTERIAL ENTEROTOXINS, medicine, Humans, Missense mutation, Abnormalities, Multiple, Genetic Predisposition to Disease, Intestinal Mucosa, Cyclic guanosine monophosphate, Sanger sequencing, PAEDIATRIC DIARRHOEA, Sodium, Gastroenterology, Infant, Molecular Reproduction, Development & Genetics (formed by the merger of DBGL and CRBME), Molecular biology, Intestines, 030104 developmental biology, Endocrinology, Intestinal Absorption, Receptors, Guanylate Cyclase-Coupled, chemistry, INTESTINAL ION TRANSPORT, symbols, Female, Metabolism, Inborn Errors, Intracellular, Uroguanylin
وصف الملف: application/pdf
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المؤلفون: Jonas, Rosendahl, Holger, Kirsten, Eszter, Hegyi, Peter, Kovacs, Frank Ulrich, Weiss, Helmut, Laumen, Peter, Lichtner, Claudia, Ruffert, Jian-Min, Chen, Emmanuelle, Masson, Sebastian, Beer, Constantin, Zimmer, Katharina, Seltsam, Hana, Algül, Florence, Bühler, Marco J, Bruno, Peter, Bugert, Ralph, Burkhardt, Giulia Martina, Cavestro, Halina, Cichoz-Lach, Antoni, Farré, Josef, Frank, Giovanni, Gambaro, Sebastian, Gimpfl, Harald, Grallert, Heidi, Griesmann, Robert, Grützmann, Claus, Hellerbrand, Péter, Hegyi, Marcus, Hollenbach, Sevastitia, Iordache, Grazyna, Jurkowska, Volker, Keim, Falk, Kiefer, Sebastian, Krug, Olfert, Landt, Milena Di, Leo, Markus M, Lerch, Philippe, Lévy, Markus, Löffler, Matthias, Löhr, Maren, Ludwig, Milan, Macek, Nuria, Malats, Ewa, Malecka-Panas, Giovanni, Malerba, Karl, Mann, Julia, Mayerle, Sonja, Mohr, Rene H M, Te Morsche, Marie, Motyka, Sebastian, Mueller, Thomas, Müller, Markus M, Nöthen, Sergio, Pedrazzoli, Stephen P, Pereira, Annette, Peters, Roland, Pfützer, Francisco X, Real, Vinciane, Rebours, Monika, Ridinger, Marcella, Rietschel, Eva, Rösmann, Adrian, Saftoiu, Alexander, Schneider, Hans-Ulrich, Schulz, Nicole, Soranzo, Michael, Soyka, Peter, Simon, James, Skipworth, Felix, Stickel, Konstantin, Strauch, Michael, Stumvoll, Pier Alberto, Testoni, Anke, Tönjes, Lena, Werner, Jens, Werner, Norbert, Wodarz, Martin, Ziegler, Atsushi, Masamune, Joachim, Mössner, Claude, Férec, Patrick, Michl, Joost, P H Drenth, Heiko, Witt, Markus, Scholz, Miklós, Sahin-Tóth
المصدر: Gut. 67(10)
مصطلحات موضوعية: Adult, Europe, Male, Pancreatitis, Alcoholic, Chymotrypsin, Humans, Female, Genetic Predisposition to Disease, Middle Aged, Polymorphism, Single Nucleotide, Aged
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المؤلفون: Miklós Sahin-Tóth, Heiko Witt, Andrea Schnúr, Sebastian Beer, Péter Hegyi
المصدر: Gut. 63:337-343
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Mutation, Hereditary pancreatitis, Trypsinogen, Chymotrypsin-C, Gastroenterology, Biology, medicine.disease, medicine.disease_cause, Article, ddc, chemistry.chemical_compound, Endocrinology, chemistry, Internal medicine, medicine, Pancreatitis, Secretion, Trypsinogen activation, Pancreatitis, chronic
وصف الملف: application/pdf
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المؤلفون: Jiayi Zhou, Miklós Sahin-Tóth, Sebastian Beer, András Szabó, Giriraj R. Chandak, Steven Keiles, Heiko Witt
المصدر: Gut. 62:1616-1624
مصطلحات موضوعية: Trypsinogen, Mutant, Mutation, Missense, Biology, Article, chemistry.chemical_compound, Pancreatitis, Chronic, medicine, Chymotrypsin, Humans, Genetic Predisposition to Disease, Trypsin, Secretion, Trypsinogen activation, Loss function, Genetics, Chymotrypsin-C, Gastroenterology, Genetic Variation, Endoplasmic Reticulum Stress, HEK293 Cells, chemistry, Culture Media, Conditioned, Biocatalysis, Unfolded protein response, medicine.drug
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المؤلفون: Holger, Kirsten, Markus, Scholz, Peter, Kovacs, Harald, Grallert, Annette, Peters, Konstantin, Strauch, Josef, Frank, Marcella, Rietschel, Markus M, Nöthen, Heiko, Witt, Jonas, Rosendahl
المصدر: Gut. 65(1)
مصطلحات موضوعية: Genetic Markers, Case-Control Studies, Germany, Pancreatitis, Chronic, Humans, Lipase, Fucosyltransferases, Polymorphism, Single Nucleotide, ABO Blood-Group System
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المؤلفون: Heiko Witt
المصدر: Gut. 52:31ii-41
مصطلحات موضوعية: Male, Paper, Pathology, medicine.medical_specialty, Pancreatic disease, Cystic Fibrosis, Pancreatitis, Alcoholic, Trypsinogen, medicine.disease_cause, Cystic fibrosis, Pathogenesis, chemistry.chemical_compound, Vas Deferens, medicine, Humans, Genetic Predisposition to Disease, Genetic testing, Mutation, Models, Genetic, biology, medicine.diagnostic_test, Gastroenterology, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Pancreatitis, chemistry, Chronic Disease, Immunology, biology.protein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93a9f80acf6bf9f29840182ec59c93b1
https://doi.org/10.1136/gut .52.suppl_2.ii31 -
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المؤلفون: Heiko Witt
المصدر: Gut. 50:590-591
مصطلحات موضوعية: Genetics, Serine protease, Proteases, Mutation, Pancreatic disease, Trypsinogen, DNA Mutational Analysis, Gastroenterology, Disease, Biology, medicine.disease, medicine.disease_cause, chemistry.chemical_compound, Exon, Pancreatitis, chemistry, Trypsin Inhibitor, Kazal Pancreatic, Chronic Disease, biology.protein, medicine, Humans, Genetic Predisposition to Disease
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