Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis

scientific article published in September 2003

Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1044313049
P356DOI10.1038/SJ.EJHG.5201035
P698PubMed publication ID12939655
P5875ResearchGate publication ID10596361

P50authorAngelo AndriulliQ38544038
P2093author name stringLeopoldo Zelante
Antonio Merla
Ada Piepoli
Francesco Perri
Pietro Stanziale
P2860cites workHereditary pancreatitis is caused by a mutation in the cationic trypsinogen geneQ24311652
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitisQ24681604
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitisQ28138406
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitisQ28145585
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitisQ28250483
Cystic fibrosis transmembrane regulator (CFTR) DeltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. PANKRAS II Study GroupQ28345126
Pancreatic aspects of cystic fibrosis and other inherited causes of pancreatic dysfunctionQ33953467
Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutationsQ34101160
Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutationsQ34103719
Chronic pancreatitis: diagnosis, classification, and new genetic developmentsQ34141293
Mutations of the cationic trypsinogen in hereditary pancreatitisQ34472573
The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the diseaseQ35594569
Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitisQ35594620
Mutations of the cystic fibrosis gene in patients with chronic pancreatitisQ38502091
Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitisQ43074804
Screening for mutations of the cationic trypsinogen gene: are they of relevance in chronic alcoholic pancreatitis?Q43087166
Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitisQ43626455
Mutation analysis of the cystic fibrosis and cationic trypsinogen genes in patients with alcohol-related pancreatitisQ46243618
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferensQ49203017
Polymerase chain reaction with confronting two-pair primers for polymorphism genotyping.Q54936056
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.Q55067851
Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosisQ58911197
Pancreatic injury in rats induced by fatty acid ethyl ester, a nonoxidative metabolite of alcoholQ61771883
Multicenter survey of the etiology of pancreatic diseases. Relationship between the relative risk of developing chronic pancreaitis and alcohol, protein and lipid consumptionQ67448545
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutationsQ71512414
Chronic pancreatitisQ72214015
Cystic fibrosis genotypes and alcoholic pancreatitisQ74706267
Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatQ77894569
P433issue9
P407language of work or nameEnglishQ1860
P921main subjectcystic fibrosisQ178194
patientQ181600
transmembrane proteinQ424204
P304page(s)687-692
P577publication date2003-09-01
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleMutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis
P478volume11

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