| http://purl.uniprot.org/citations/20631224 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20631224 | http://www.w3.org/2000/01/rdf-schema#comment | "Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome. The results showed the presence of a double mutation in 1 patient: p.R306C and c.1461+98insA, which create a new hypothetical polyadenylation site in the 3(')UTR of the MECP2 gene. We also detected in another patient a new variant c.1461+92C>G in the 3(')UTR located previous to 34 bp from the polyadenylation site with a score of 4.085. This variation is located in a hypothetical splicing enhancer with a score of 1.96277 according to the ESE finder program. In the remaining 5 patients, we found 2 common mutations: p.T158M in 4 individuals and p.R168X in only 1 girl."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.org/dc/terms/identifier | "doi:10.1177/0883073809356353"xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/author | "Fakhfakh F."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/author | "Triki C."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/author | "Zemni R."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/author | "Belguith N."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/author | "Louhichi N."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/author | "Fendri-Kriaa N."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/author | "Mkaouar-Rebai E."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/author | "Moalla D."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/author | "Slama F."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/name | "J Child Neurol"xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/pages | "1042-1046"xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/title | "Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation."xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://purl.uniprot.org/core/volume | "25"xsd:string |
| http://purl.uniprot.org/citations/20631224 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20631224 |
| http://purl.uniprot.org/citations/20631224 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/20631224 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z401-mappedCitation-20631224 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20631224 |
| http://purl.uniprot.org/uniprot/#_A0A075BNY0-mappedCitation-20631224 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20631224 |
| http://purl.uniprot.org/uniprot/#_A0A075BPH5-mappedCitation-20631224 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20631224 |
| http://purl.uniprot.org/uniprot/#_A0A075BPP5-mappedCitation-20631224 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20631224 |
| http://purl.uniprot.org/uniprot/#_A0A075BRI2-mappedCitation-20631224 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20631224 |
| http://purl.uniprot.org/uniprot/#_A0A075BRJ5-mappedCitation-20631224 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20631224 |