| http://purl.uniprot.org/citations/10533069 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10533069 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10533069 | http://www.w3.org/2000/01/rdf-schema#comment | "Considering the prevalence of truncating mutations in the tuberous sclerosis (TSC) hamartin gene (TSC1), we devised a protein truncation test (PTT) to analyze the full length coding sequence of TSC1. Studying 12 sporadic cases and three familial forms by a combination of PTT and single-strand conformation polymorphism analysis (SSCA), we found 5/15 mutations while PTT alone detected 4/15 truncating mutations, two of which escaped SSCA analysis. SSCA alone picked up one missense mutation and two mutations also detected by PTT. Interestingly, a TSC1 mutation was identified in all three familial forms (3/3) while the rate of mutation detection was lower in sporadic cases (2/12). In conclusion, PTT proves to be a useful technique for the rapid detection of disease-causing mutations in the TSC1 gene."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(199911)14:5<428::aid-humu9>3.0.co;2-5"xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(199911)14:5<428::aid-humu9>3.0.co;2-5"xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/author | "Hadj-Rabia S."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/author | "Hadj-Rabia S."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/author | "Benit P."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/author | "Benit P."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/author | "Bonnefont J.-P."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/author | "Bonnefont J.-P."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/author | "Kara-Mostefa A."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/author | "Kara-Mostefa A."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/pages | "428-432"xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/pages | "428-432"xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/title | "Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/title | "Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations."xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/volume | "14"xsd:string |
| http://purl.uniprot.org/citations/10533069 | http://purl.uniprot.org/core/volume | "14"xsd:string |