Associated Papers
[194 + 2T>C;-215G>A] mutation of SPINK1 gene is associated with fibrocalculous pancreatic diabetes: A rare case report.
Li Y et al.
Medicine, 2025
PRSS1, SPINK1 Mutations and Associated Factors in Vietnamese Patients With Chronic Pancreatitis.
Vo TTL et al.
Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2025
Acute pancreatitis following asparaginase treatment in pediatric acute lymphoblastic leukemia with a heterozygous SPINK1 c.194 + 2T>C intronic variant: a case report.
Zhou H et al.
Frontiers in Pediatrics, 2024
Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.
Lin JH et al.
Frontiers in Genetics, 2021
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.
Chen JM et al.
Current Genomics, 2020
Toward a clinical diagnostic pipeline for SPINK1 intronic variants.
Tang XY et al.
Human Genomics, 2019
The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the Disease.
Wejnarska K et al.
Journal of Pediatric Gastroenterology and Nutrition, 2016
Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.
Kereszturi E et al.
Gut, 2009
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
Masson E et al.
European Journal of Human Genetics : Ejhg, 2006
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
Le Maréchal C et al.
Human Mutation, 2004
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.
Pfützer RH et al.
Gastroenterology, 2000
Select a paper to view details