| http://purl.uniprot.org/citations/10627141 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10627141 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10627141 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with inherited mutation in one of four DNA mismatch repair genes. Somatic mutations in the same genes are also found in a subset of sporadic colorectal cancers. A defect in DNA mismatch repair results in a RER (replication error) tumor phenotype. We screened 110 archival and 11 prospectively acquired colorectal cancers for the RER phenotype. A total of 22 cancers were RER-positive. RER-positive tumors were investigated for mutations in the DNA mismatch repair gene MLH1 using single-strand-conformation-polymorphism (SSCP) analysis. We identified four previously undescribed mutations in four different samples. Three mutations were exonic: a point mutation at codon 69 (AGG-->AAG(arg-->lys]); a single base pair deletion at codon 42/43 (GCAAAATCC-->GCAAATCC) leading to a new stop codon downstream; and a point mutation at codon 757 (TAA-->TAT [termination-->tyr] which extend the MLH1 peptide by 36 ammino acids. The fourth mutation was a 1 base pair insertion six base pairs 5' to the start of exon 14 (tttgtttt-->tttggtttt). The mutations were not seen in the patients' constitutional DNA. The somatic MLHI mutations identified appear to be causally associated with the RER phenotype."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1998)12:1<73::aid-humu20>3.0.co;2-f"xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1998)12:1<73::aid-humu20>3.0.co;2-f"xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Goodfellow P.J."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Goodfellow P.J."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Moley J.F."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Moley J.F."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Wells S.A. Jr."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Wells S.A. Jr."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Herfarth K.K.-F."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Herfarth K.K.-F."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Kodner I.J."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Kodner I.J."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Ogunbiyi O.A."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/author | "Ogunbiyi O.A."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/pages | "73"xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/pages | "73"xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/title | "Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability."xsd:string |
| http://purl.uniprot.org/citations/10627141 | http://purl.uniprot.org/core/title | "Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability."xsd:string |