Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis

Gut

Volumn 50, Issue 2, 2002, Pages 271-272

  Pfutzer R ^a   Myers, E ^a   Applebaum Shapiro, S ^a   Finch, R ^a   Ellis, I ^b   Neoptolemos, J ^b   Kant, J A ^c   Whitcomb, D C ^a  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF LIVERPOOL   (United Kingdom)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; TRYPSIN; TRYPSINOGEN;

ADULT; ARTICLE; AUTOLYSIS; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PANCREATITIS; PEDIGREE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0036151004     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.50.2.271     Document Type: Article

References (6)

1. Hereditary pancreatitis and the risk of pancreatic cancer
2. Hereditary pancreatitis
3. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene
4. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
5. Genetic testing: Counseling, laboratory and regulatory issues and the EUROPAC protocol for ethical research in multi-center studies of inherited pancreatic diseases
6. Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis