scholarly article | Q13442814 |
P50 | author | Kyung-A Lee | Q60375926 |
Saeam Shin | Q85505121 | ||
P2093 | author name string | Sun Mi Cho | |
P2860 | cites work | A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. | Q51655795 |
The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis. | Q53283990 | ||
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. | Q54593532 | ||
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. | Q55067851 | ||
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis | Q57263763 | ||
The hereditary pancreatitis gene maps to long arm of chromosome 7 | Q71625105 | ||
A gene for hereditary pancreatitis maps to chromosome 7q35 | Q71884887 | ||
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis | Q79144290 | ||
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis | Q24645261 | ||
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis | Q24658116 | ||
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis | Q28138406 | ||
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis | Q28145585 | ||
Pedigree of a family with hereditary chronic relapsing pancreatitis | Q28244501 | ||
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients | Q30000783 | ||
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis. | Q34628792 | ||
Mesotrypsin Signature Mutation in a Chymotrypsin C (CTRC) Variant Associated with Chronic Pancreatitis. | Q35837145 | ||
Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy. | Q36805212 | ||
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis. | Q36927073 | ||
Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study | Q37172601 | ||
Genetics of pancreatitis: a guide for clinicians | Q37869759 | ||
Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen | Q38290039 | ||
Analysis of PRSS1 and SPINK1 mutations in Korean patients with idiopathic and familial pancreatitis | Q38498428 | ||
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis | Q38502091 | ||
Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis | Q39222848 | ||
Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants | Q39334642 | ||
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk | Q40906883 | ||
Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis | Q43626455 | ||
Identification of novel missense CTRC variants in Japanese patients with chronic pancreatitis | Q45140102 | ||
PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan | Q45185945 | ||
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? | Q46039599 | ||
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis | Q46905124 | ||
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation | Q48074890 | ||
P275 | copyright license | Creative Commons Attribution-NonCommercial 4.0 International | Q34179348 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 6 | |
P304 | page(s) | 555-560 | |
P577 | publication date | 2016-11-01 | |
P1433 | published in | Annals of laboratory medicine | Q26853883 |
P1476 | title | PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis | |
P478 | volume | 36 |
Q92370211 | Effect of lentivirus-mediated CFTR overexpression on oxidative stress injury and inflammatory response in the lung tissue of COPD mouse model |
Q36324719 | Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East |
Q33843764 | Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway |
Q39398523 | Genetic risk in chronic pancreatitis: the misfolding-dependent pathway |
Q58690866 | SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis |
Q64239617 | Toward a clinical diagnostic pipeline for SPINK1 intronic variants |
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