| http://purl.uniprot.org/citations/16358725 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16358725 | http://www.w3.org/2000/01/rdf-schema#comment | "A collection of DNA samples obtained from primary open-angle glaucoma (POAG) patients from St. Petersburg was analyzed for single-strand conformation polymorphism (SSCP) to reveal sequence variants in exon 3 of the myocilin gene (MYOC/TIGR) and in exons 4 and 5 of the optineurin gene (OPTN), where most of the mutations revealed worldwide are located. The Q368X mutation (c. 1102 C --> T) in exon 3 of MYOC/TIGR was detected in 1.2% (2/170) of the POAG patients from St. Petersburg, i.e., with the frequency close to that observed in other world populations. Three known polymorphisms in exon 3 of MYOC/TIGR, Y347Y (c. 1041 T --> C) (12.4%), T325T (c. 975 G --> A) (0.6%), and K398R (c. 1193 A --> G) (0.6%) were also detected. No statistically significant differences in frequencies of these polymorphisms were revealed between the POAG patient and control groups. The L41L polymorphism (c. 433 G --> A) in exon 4 of OPTN was detected in 2.9% of probands and in 1% of controls. The frequency of heterozygotes for the M98K polymorphism (c. 603 T --> A) in the OPTN exon 5 was statistically significantly higher (P = 0.036; Fisher's exact test) among the POAG patients (6.5%) than among the controls (1%). In the sample examined the E50K mutation, typical of the patients with pseudonormal intraocular pressure glaucoma, was not found."xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/author | "Golubkov V.I."xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/author | "Zakharova F.M."xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/author | "Astakhov I.u.S."xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/author | "Kvasova M.D."xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/author | "Mandel'shtam M.I.u."xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/author | "Nikitina N.I.a."xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/author | "Rakhmanov V.V."xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/author | "Vasil'ev V.B."xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/name | "Genetika"xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/pages | "1567-1574"xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/title | "[Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma]."xsd:string |
| http://purl.uniprot.org/citations/16358725 | http://purl.uniprot.org/core/volume | "41"xsd:string |
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