|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
BEFREE |
Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen.
|
11719509 |
2002 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families.
|
19454815 |
2009 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.
|
11073545 |
2000 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.
|
10381903 |
1999 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis.
|
16954950 |
2006 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.
|
10930381 |
2000 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Chronic pancreatitis: genetics and pathogenesis.
|
19453252 |
2009 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.
|
24002981 |
2013 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.
|
11734061 |
2001 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
|
17568390 |
2007 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
|
15776435 |
2005 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Here we report a family with hereditary pancreatitis that carries a novel PRSS1 mutation (R122C).
|
11719509 |
2002 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Hereditary chronic pancreatitis.
|
17204147 |
2007 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
|
8841182 |
1996 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
|
8841182 |
1996 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.
|
24458023 |
2014 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).
|
14695529 |
2004 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.
|
11866271 |
2002 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.
|
10204851 |
1999 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
|
9322498 |
1997 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.
|
16791840 |
2006 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations of the cationic trypsinogen in hereditary pancreatitis.
|
9633818 |
1998 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.
|
11788572 |
2002 |
|
Hereditary pancreatitis
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.
|
11788572 |
2002 |
|
Hereditary pancreatitis
|
|
0.820 |
CausalMutation
|
CLINVAR |
Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis.
|
18272034 |
2008 |