[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site

scientific article published on August 2006

[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/GUT.2006.095752
P932PMC publication ID1856255
P698PubMed publication ID16849362
P5875ResearchGate publication ID6937195

P2093author name stringA Masamune
T Shimosegawa
K Kume
K Kikuta
P2860cites workSPINK1/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
Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitisQ28189191
The primary structure of the human pancreatic secretory trypsin inhibitor. Amino acid sequence of the reduced S-aminoethylated proteinQ28265956
Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) geneQ28299358
Pre-mRNA splicing and human diseaseQ29617335
Distribution and expression of pancreatic secretory trypsin inhibitor and its possible role in epithelial restitutionQ41221231
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitisQ44727697
Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitisQ46568542
Human Gene Mutation Database (HGMD): 2003 updateQ47903166
P433issue8
P407language of work or nameEnglishQ1860
P304page(s)1214
P577publication date2006-08-01
P1433published inGutQ5621669
P1476title[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site
P478volume55

Reverse relations

cites work (P2860)
Q35304061Assessing the pathological relevance of SPINK1 promoter variants
Q27693296Chymotrypsin C mutations in chronic pancreatitis
Q48271163Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis
Q37172601Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study
Q54561328Differential roles of the SPINK1 gene mutations in alcoholic and nonalcoholic chronic pancreatitis.
Q53172779Do genetic variants in the SPINK1 gene affect the level of serum PSTI?
Q92313549First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts
Q40314070Functional significance of SPINK1 promoter variants in chronic pancreatitis.
Q33843764Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway
Q37208470Genetic aspects of tropical calcific pancreatitis
Q35671374Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis
Q37869759Genetics of pancreatitis: a guide for clinicians
Q33815473High Prevalence of Serine Protease Inhibitor Kazal Type 1 Gene Variations Detected by Whole Gene Sequencing in Patients with Fibrocalculous Pancreatic Diabetes.
Q33640501In silico prioritization and further functional characterization of SPINK1 intronic variants
Q37181595Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.
Q50238364Nationwide survey of hereditary pancreatitis in Japan
Q54582902SPINK1 gene mutations and pancreatitis in Japan.
Q46705589SPINK1, ADH2, and ALDH2 gene variants and alcoholic chronic pancreatitis in Japan
Q58690866SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis
Q48295919Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene
Q97519251The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted
Q64239617Toward a clinical diagnostic pipeline for SPINK1 intronic variants
Q36174524Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis

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