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European Journal of Human Genetics, ISSN 1018-4813, 2002, Volume 10, Issue 2, pp. 100 - 106
dIn the last 5 years, mutations in three genes, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and... 
Trans-heterozygote | Idiopathic chronic pancreatitis (ICP) | Mutation analysis | Cystic fibrosis transmembrane conductance regulator (CFTR) | Pancreatic secretory trypsin inhibitor (PSTI/SPINK1 | Cationic trypsinogen gene (PRSS1) | SPINK1 GENE | cationic trypsinogen gene (PRSS1) | BIOCHEMISTRY & MOLECULAR BIOLOGY | pancreatic secretory trypsin inhibitor (PSTI/SPINK1) | RISK | PREVALENCE | CFTR GENE | trans-heterozygote | idiopathic chronic pancreatitis (ICP) | cystic fibrosis transmembrane conductance regulator (CFTR) | HEREDITARY | RECURRENT | CLONING | mutation analysis | GENETICS & HEREDITY | PSTI GENE | MUTATIONS | JAPANESE PATIENTS | Trypsinogen - metabolism | Genetic Predisposition to Disease | Pancreatitis - etiology | Humans | Male | Cystic Fibrosis Transmembrane Conductance Regulator - metabolism | Trypsin Inhibitor, Kazal Pancreatic - genetics | Trypsinogen - genetics | Trypsin Inhibitor, Kazal Pancreatic - metabolism | Pancreatitis - genetics | Trypsin | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Female | Mutation | France | Chronic Disease | Genomics | Genes | Pancreatitis | Heterozygotes | Cystic fibrosis | Alcohol | Trypsinogen | Trypsin inhibitor gene | Trypsinogen gene | Etiology | Gastroenterology | Alleles | Fibrosis | Pancreatic secretory trypsin | Genetics | Conductance | Cystic fibrosis transmembrane conductance regulator | Pancreas
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 09/2017, Volume 9, Issue 9, pp. 1224 - 1243
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Journal Article
Journal Article
Gene, ISSN 0378-1119, 11/2019, Volume 719, p. 144007
Congenital bilateral absence of vas deferens (CBAVD), a frequent cause of obstructive azoospermia and male infertility in Chinese, is mainly due to mutations... 
Functional analysis | Genetic counseling | Mutation | Promoter region | CFTR | CBAVD | DIAGNOSIS | MOLECULAR ANALYSIS | CONDUCTANCE REGULATOR CFTR | DISEASE | GENETICS & HEREDITY | FUNCTIONAL-ANALYSIS | MALES | EXPRESSION | CYSTIC-FIBROSIS GENE
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 04/2011, Volume 22, Issue 4, pp. 693 - 703
Journal Article
Journal of Cystic Fibrosis, ISSN 1569-1993, 01/2018, Volume 17, Issue 1, pp. 10 - 16
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Current Opinion in Pulmonary Medicine, ISSN 1070-5287, 11/2016, Volume 22, Issue 6, pp. 602 - 609
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Pancreas, ISSN 0885-3177, 11/2017, Volume 46, Issue 10, pp. 1373 - 1380
Journal Article