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Article

Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.

European journal of human genetics : EJHG - 1 Jul 2003

Gomez-Lira Macarena, Bonamini Deborah, Castellani Carlo, Unis Lorenza, Cavallini Giorgio, Assael Baroukh Maurice, Pignatti Pier Franco

Abstract excerpt

Idiopathic chronic and acute recurrent pancreatitis (IP) have been associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Mutations in the serine protease inhibitor Kazal 1 (SPINK1) have been described in some idiopathic chronic patients and it has been suggested that mutations in this gene could be responsible for a loss of trypsin inhibitor function. In this study, the...

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Source

Identifiers

PMID: 12825076
DOI: 10.1038/sj.ejhg.5200989

Genes

SPINK1
CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.PMID 12825076Read ↗

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Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.Semantic proximity Read ↗

Presence of SPINK-1 variant alters the course of chronic pancreatitis.Semantic proximity Read ↗

Hereditary Pancreatitis Related to SPINK-1 Mutation. Is There an Increased Risk of Developing Pancreatic Cancer?Semantic proximity Read ↗

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.Semantic proximity Read ↗

Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.Semantic proximity Read ↗

Phenotypic variability of the homozygous IVS3+2T>C mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene in patients with chronic pancreatitis.Semantic proximity Read ↗

Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.Semantic proximity Read ↗

SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.Semantic proximity Read ↗

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