| http://purl.uniprot.org/citations/9621522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9621522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9621522 | http://www.w3.org/2000/01/rdf-schema#comment | "We screened for germline mutations of mismatch repair genes, hMLH1 and hMSH2, in five Japanese families carrying hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with multiple primary cancers. Screening the entire coding regions of both genes using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis, we found two novel germline mutations in hMSH2. One was a 1-bp insertion in exon 12, detected in a patient who had undergone surgery six times for independent tumors (four primary colorectal carcinomas, a small intestinal carcinoma, and an endometrial cancer). The other, in a second patient, was a missense mutation from CTT to TTT at codon 390 in exon 7 that resulted in substitution of phenylalanine for leucine. This conservative alteration was not found in any of 50 normal controls, but we cannot exclude the possibility that it may represent a rare polymorphism rather than a factor in the disease."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.org/dc/terms/identifier | "doi:10.1007/s100380050057"xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.org/dc/terms/identifier | "doi:10.1007/s100380050057"xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/author | "Koyama K."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/author | "Koyama K."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/author | "Miyoshi Y."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/author | "Miyoshi Y."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/author | "Monden M."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/author | "Monden M."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/author | "Okamura S."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/author | "Okamura S."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/author | "Takami M."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/author | "Takami M."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/name | "J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/name | "J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/pages | "143-145"xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/pages | "143-145"xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/title | "Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer 'HNPCC' and in a patient with six primary cancers."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/title | "Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer 'HNPCC' and in a patient with six primary cancers."xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/volume | "43"xsd:string |
| http://purl.uniprot.org/citations/9621522 | http://purl.uniprot.org/core/volume | "43"xsd:string |