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American Journal of Gastroenterology, ISSN 0002-9270, 09/2018, Volume 113, Issue 9, pp. 1376 - 1384
OBJECTIVES: Hereditary pancreatitis (HP), an autosomal dominant disease typically caused by mutations in PRSS1, has a broad range of clinical characteristics... 
MORTALITY | CATIONIC TRYPSINOGEN GENE | PRSS1 GENE | VARIANTS | MUTATION | CLINICAL CHARACTERISTICS | VITAL STATUS | RISK | GASTROENTEROLOGY & HEPATOLOGY | NATIONAL-DEATH-INDEX | FAMILY | Mutation | Health risk assessment | Pancreatic cancer | Pancreatitis | PRSS1 | pancreatic cancer | Hereditary pancreatitis
Journal Article
Deutsche Medizinische Wochenschrift, ISSN 0012-0472, 05/2017, Volume 142, Issue 9, pp. 673 - 677
Journal Article
Gastroenterology, ISSN 0016-5085, 5/2013, Volume 144, Issue 5, pp. 1076 - 1085.e2
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2013, Volume 45, Issue 10, pp. 1216 - 1220
Journal Article
Pancreas, ISSN 0885-3177, 02/2018, Volume 47, Issue 2, pp. e3 - e4
Journal Article
Journal Article
Gut, ISSN 0017-5749, 03/2018, Volume 67, Issue 3, pp. 592 - 592
Apart from the technical difficulties inherent in detecting CNVs, particularly those characterised by an increased copy number, there may be another reason,... 
copy number variant | chronic pancreatitis | promoter variant PRSS1 gene | duplication | GASTROENTEROLOGY & HEPATOLOGY | PRSS1-PRSS2 | Breakpoints | Disease | Copy number | Pancreatitis | Whites | Mutation | Patients
Journal Article
Digestive Diseases, ISSN 0257-2753, 04/2011, Volume 28, Issue 6, pp. 702 - 708
Journal Article
Folia Neuropathologica, ISSN 1641-4640, 2016, Volume 54, Issue 1, pp. 66 - 71
Aim: We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met... 
Molecular imaging | PRSS1 mutation | Clinical features | MELAS | Pancreatitis | PRSS1 GENE | DISORDERS | PATHOLOGY | molecular imaging | NEUROSCIENCES | MITOCHONDRIAL-DNA DISEASE | AUTOIMMUNE PANCREATITIS | MUTATION | pancreatitis | LACTIC-ACIDOSIS | clinical features
Journal Article
Journal Article
Galician Medical Journal, ISSN 2306-4285, 12/2016, Volume 23, Issue 4, pp. E2016422 - E2016422
The occurrence of gene mutations affecting the formation of acute pancreatitis or exacerbation of chronic pancreatitis differs in different populations and... 
PRSS1 | SPINK1 | TNF-α | gene | IL-4 | polymorphism | CFTR
Journal Article
Current opinion in gastroenterology, ISSN 0267-1379, 9/2012, Volume 28, Issue 5
Journal Article
JAMA Pediatrics, ISSN 2168-6203, 06/2016, Volume 170, Issue 6, pp. 562 - 569
Journal Article
Pediatria Polska, ISSN 0031-3939, 09/2017, Volume 92, Issue 5, pp. 636 - 639
Hereditary pancreatitis is a rare disease with autosomal dominant inheritance. In 1996, Whitcomb et al. linked it to the mutation of the gene encoding cationic... 
PRSS1 gene | CFTR gene | Epstein-Barr virus | Hereditary pancreatitis
Journal Article
Gastroenterology, ISSN 0016-5085, 12/2011, Volume 141, Issue 6, pp. 2210 - 2217.e2
Journal Article
Pancreas, ISSN 0885-3177, 10/2018, Volume 47, Issue 9, pp. 1078 - 1086
Objective The aim of this study was to evaluate the connection between pancreatic cancer (PC) and genetic variants associated with chronic pancreatitis via... 
pancreatic cancer | chronic pancreatitis | SPINK1 | CFTR | SPINK1 GENE | N34S | PRSS1 | HEREDITARY PANCREATITIS | VARIANTS | POLYMORPHISMS | MUTATIONS | INHIBITOR | GASTROENTEROLOGY & HEPATOLOGY | CYSTIC-FIBROSIS GENE | Genetic aspects | Pancreatic diseases | Risk factors | Meta-analysis | Original
Journal Article
Molecular Medicine, ISSN 1076-1551, 2016, Volume 22, Issue 1, pp. 300 - 309
Genetic features of chronic pancreatitis (CP) have been investigated extensively, mainly by testing genes associated to the trypsinogen activation pathway.... 
MEDICINE, RESEARCH & EXPERIMENTAL | SENSING RECEPTOR GENE | HEREDITARY PANCREATITIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISORDERS | AUTOPHAGY | MISSENSE MUTATIONS | CELL BIOLOGY | PATHOGENESIS | PRSS1 VARIANTS | DISEASE | CFTR | CYSTIC-FIBROSIS GENE
Journal Article
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