Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis

BACKGROUND & AIMS: We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis (HP1), providing strong evidence that trypsin plays a central role in premature zymogen activation and pancreatitis. How...

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Veröffentlicht in:	Gastroenterology (New York, N.Y. 1943) N.Y. 1943), 1997-10, Vol.113 (4), p.1063-1068
Hauptverfasser:	Gorry, MC, Gabbaizedeh, D, Furey, W, Gates, LK, Preston, RA, Aston, CE, Zhang, Y, Ulrich, C, Ehrlich, GD, Whitcomb, DC
Format:	Artikel
Sprache:	eng
Schlagworte:	Acute Disease Adenine Asparagine Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 7 Chronic Disease Female Gastroenterology. Liver. Pancreas. Abdomen Genetic Linkage Hospitalization Humans Isoleucine Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Other diseases. Semiology Pancreatitis - enzymology Pancreatitis - genetics Pancreatitis - physiopathology Pedigree Point Mutation Recurrence Thymine Trypsinogen - genetics
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