{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T10:26:30Z","timestamp":1771669590785,"version":"3.50.1"},"reference-count":9,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Res"],"published-print":{"date-parts":[[2003]]},"abstract":"<jats:p>We examined the &lt;i&gt;XLRS1&lt;\/i&gt; gene for mutations in 6 Japanese patients with X-linked juvenile retinoschisis from a total of three families (5 males and 1 female), and from 3 obligate carrier females. DNA was amplified for all six coding exons of the &lt;i&gt;XLRS1&lt;\/i&gt; gene with established primer pairs, and was sequenced directly. Each family had a different mutation, Trp96stop, 522+1g\u2192a, and Lys167Asn in the &lt;i&gt;XLRS1&lt;\/i&gt; gene. Affected patients had a hemizygous mutant allele while the obligate carrier females were heterozygotes who had both wild-type and mutant-type alleles. A proband female, who was the offspring of asymptomatic and nonconsanguineous parents, was found to have a chromosomal karyotype (45, X) that was indicative of Turner\u2019s syndrome. These three different mutations in the &lt;i&gt;XLRS1&lt;\/i&gt; gene have not been previously reported. Further studies are needed to determine the relationship between these defects in the &lt;i&gt;XLRS1&lt;\/i&gt; gene and the phenotypic expression of the disease.<\/jats:p>","DOI":"10.1159\/000072151","type":"journal-article","created":{"date-parts":[[2003,8,18]],"date-time":"2003-08-18T08:23:26Z","timestamp":1061195006000},"page":"295-300","source":"Crossref","is-referenced-by-count":17,"title":["Three Novel Mutations in the X-Linked Juvenile Retinoschisis &lt;i&gt;(XLRS1)&lt;\/i&gt; Gene in 6 Japanese Patients, 1 of Whom Had Turner\u2019s Syndrome"],"prefix":"10.1159","volume":"35","author":[{"given":"Masaki","family":"Sato","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuro","family":"Oshika","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuuichi","family":"Kaji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harumi","family":"Nose","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2003,8,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-164"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050796"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1076\/opge.20.1.57.2303"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1076\/opge.20.1.37.2299"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.0323"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2000.2133"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(02)01592-1"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097\/00006982-200206000-00017"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1023\/A:1002432919073"}],"container-title":["Ophthalmic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/72151","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/72151","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:37:06Z","timestamp":1745465826000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000072151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003]]},"references-count":9,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2003,10,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000072151","archive":["Portico"],"relation":{},"ISSN":["0030-3747","1423-0259"],"issn-type":[{"value":"0030-3747","type":"print"},{"value":"1423-0259","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003]]}}}