Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis [3]

Gastroenterology

Volumn 120, Issue 4, 2001, Pages 1061-1063

  Chen, J M ^a   Mercier, B ^a   Audrezet, M P ^a   Raguenes, O ^a   Quere, I ^a   Ferec, C ^a   Pfutzer R H ^a   Barmada, M M ^a   Whitcomb, D C ^a  

^a UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

APROTININ;

ADULT; CHRONIC PANCREATITIS; DNA POLYMORPHISM; FEMALE; FRANCE; GENETIC ASSOCIATION; HUMAN; IDIOPATHIC DISEASE; LETTER; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATIENT SELECTION; PRIORITY JOURNAL;

EID: 0035124067     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/gast.2001.23094     Document Type: Letter

References (10)

1. JM Chen B Mercier MP Audrezet Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis J Med Genet 37 2000 67 69
2. H Witt W Luck HC Hennies Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis Nat Genet 25 2000 213 216
3. RH Pfützer MM Barmada APJ Brunskill SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis Gastroenterology 119 2000 615 623
4. C Ferec O Raguenes R Salomon Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis J Med Genet 36 1999 228 232
5. DC Whitcomb MC Gorry RA Preston Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene Nat Genet 14 1996 141 145
6. JT Dunnen SE. Antonarakis Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion Hum Mutat 15 2000 7 12
7. MC Gorry D Gabbaizedeh W Furey Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis Gastroenterology 113 1997 1063 1068
8. M. Sahin-Toth Human cationic trypsinogen Role of asn-21 in zymogen activation and implications in hereditary pancreatitis J Biol Chem 275 2000 22750 22755
9. M. Sahin-Toth Hereditary pancreatitis-associated mutation asn(21) → ile stabilizes rat trypsinogen in vitro J Biol Chem 274 1999 29699 29704
10. CS Chu BC Trapnell S Curristin Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA Nat Genet 3 1993 151 156