| http://purl.uniprot.org/citations/17489851 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17489851 | http://www.w3.org/2000/01/rdf-schema#comment | "Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This is a case-control study consisting of 25 Greek patients with CP and a control population of 236 healthy Greek subjects. The whole coding area and neighboring intronic regions of the three genes were screened. Seventeen of 25 patients (68%) had mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: nine compound heterozygotes with either mild or severe mutations and eight heterozygotes. Four patients (16%) carried CFTR-modulating haplotypes V470-TG11-T5 and V470-TG12-T7. All were negative for PRSS1 gene mutations, while variants c.486C/T and c.738C/T were found in nine patients each, three homozygotes for the minor alleles. Two carried SPINK1 gene mutation p.N34S, one being transheterozygote with CFTR mutation p.F1052V. The promoter variant -253T>C was found in four individuals (one homozygous for the minor allele), all four being transheterozygotes with mutations in the CFTR gene as well. Finally two carried c.272C/T in the 3' untranslated region, one being a p.N34S carrier as well. In total, 80% (20/25) of patients had a molecular defect in one or both of the CFTR and SPINK1 genes, suggesting that mutations/variants in the CFTR plus or minus mutations in the SPINK1, but not the PRSS1 gene, may confer a high risk for recurrent pancreatitis."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.2007.00788.x"xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/author | "Makrythanasis P."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/author | "Kanavakis E."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/author | "Tzetis M."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/author | "Kaliakatsos M."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/author | "Doudounakis S."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/author | "Tsezou A."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/author | "Fotoulaki M."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/author | "Nousia-Arvanitakis S."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/author | "Papatheodorou A."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/pages | "451-457"xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/title | "Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis."xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://purl.uniprot.org/core/volume | "71"xsd:string |
| http://purl.uniprot.org/citations/17489851 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/17489851 |
| http://purl.uniprot.org/citations/17489851 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/17489851 |
| http://purl.uniprot.org/uniprot/#_A0A089NFM8-mappedCitation-17489851 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17489851 |
| http://purl.uniprot.org/uniprot/#_A0A089PPW6-mappedCitation-17489851 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17489851 |
| http://purl.uniprot.org/uniprot/#_A0A088T1A1-mappedCitation-17489851 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17489851 |
| http://purl.uniprot.org/uniprot/#_A0A096ZUB9-mappedCitation-17489851 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17489851 |
| http://purl.uniprot.org/uniprot/#_A0A096ZUC0-mappedCitation-17489851 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17489851 |
| http://purl.uniprot.org/uniprot/#_A0A096ZUC4-mappedCitation-17489851 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17489851 |