http://purl.uniprot.org/citations/15534471 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15534471 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15534471 | http://www.w3.org/2000/01/rdf-schema#comment | "PurposeTo screen for mutations in the MYOC gene in Japanese patients with primary open-angle glaucoma (POAG) using denaturing high-performance liquid chromatography (DHPLC).Patients and methodsBlood samples were collected from 171 patients with POAG and 100 controls from seven institutions in Japan. For high-throughput analysis, seven exonic regions were amplified by polymerase chain reaction using DNA pooled from three patients; each DNA pool was then analyzed chromatographically. For analysis of a small number of samples, 7 exonic regions were amplified separately but simultaneously with annealing at 58 degrees C in each patient and then chromatographed, using 7 wells of the same 96-well plate per sample. When chromatographic patterns were abnormal by either method, the PCR products of the individual samples were sequenced.ResultsFour glaucoma-causing mutations were identified in five POAG patients (2.9%). One missense mutation, Phe369Leu, is new; and three others, Ile360Asn, Ala363Thr, and Thr448Pro, have been reported in Japanese patients. Phe369Leu was associated with adult onset POAG.ConclusionsMutations in the MYOC gene were demonstrated chromatographically in 2.9% of our Japanese POAG patients. The use of pooled DNAs with DHPLC analysis is a time- and labor-saving technique. All mutations detected appear to be specific to Japanese patients."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.org/dc/terms/identifier | "doi:10.1097/0.ijg.0000138204.6d"xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.org/dc/terms/identifier | "doi:10.1097/0.ijg.0000138204.6d"xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Ishikawa K."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Ishikawa K."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Suzuki K."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Suzuki K."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Tanino T."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Tanino T."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Funayama T."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Funayama T."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Iwata T."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Iwata T."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Tanihara H."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Tanihara H."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Mashima Y."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Mashima Y."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Ohtake Y."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Ohtake Y."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Fujimaki T."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Fujimaki T."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Kurosaka D."xsd:string |
http://purl.uniprot.org/citations/15534471 | http://purl.uniprot.org/core/author | "Kurosaka D."xsd:string |