{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:33:22Z","timestamp":1760747602782,"version":"build-2065373602"},"reference-count":20,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,10]]},"abstract":"<jats:p>X linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterised by decreased visual acuity and disturbance of night vision. CSNBX appears to be not only clinically but also genetically heterogeneous. On studying a single large family, we recently suggested the presence of a distinct locus for CSNBX in Xp21.1. Here, we describe the results of a linkage analysis in another large CSNBX family, which confirms this finding. Thus, the data presented here provide conclusive evidence for a distinct CSNBX locus in Xp21.1, closely linked to the X linked retinitis pigmentosa type 3 gene. The results combined with other published results indicate the order Xpter-DXS451-DMD-DYS1-(DXS1110, CSNBX1, XLRP3)-DXS7-(CSNBX2, XLRP2)-DXS14-Xcen.<\/jats:p>","DOI":"10.1136\/jmg.33.10.869","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"869-872","source":"Crossref","is-referenced-by-count":9,"title":["Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1."],"prefix":"10.1136","volume":"33","author":[{"given":"A A","family":"Bergen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J B","family":"ten Brink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Riemslag","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E J","family":"Schuurman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Meire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Tijmes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P T","family":"de Jong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1001\/archopht.1986.01050190071042","article-title":"Congenital stationary night blindness with negative electroretinogram","volume":"104","author":"Miyake, Y.; Yagasaki, K.; Horiguchi, M.; Case, Y.; Kanda, T.","year":"1986","unstructured":"Miyake Y, Yagasaki K, Horiguchi M, Case Y, Kanda T. 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Assignment of the gene for complete congenital stationary night blindness (CSNB1) to Xpll.3. Genomics 1989;5: 727-37.","journal-title":"Genomics"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF00283682","article-title":"Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp","volume":"81","author":"Gal, A.; Schinzel, A.; Orth, U.","year":"1989","unstructured":"Gal A, Schinzel A, Orth U, et al. Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Hum Genet 1989;81:315-18.","journal-title":"Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/0888-7543(92)90394-8","article-title":"Mapping a locus for X-linked congenital stationary night blindness (CSNBl) proximal to DXS7","volume":"12","author":"Bech-Hansen, N.T.; Moore, B.J.; Pearce, W.G.","year":"1992","unstructured":"Bech-Hansen NT, Moore BJ, Pearce WG. 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Heterozygous missense mutation in the rod cGMP phospho-diesterase-,-subunit gene in autosomal dominant congenital stationary night blindness. Nature Genet 1994; 4:280-3.","journal-title":"Nature Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.10.869","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:18:37Z","timestamp":1760725117000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.10.869"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,10]]},"references-count":20,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1996,10,1]]},"published-print":{"date-parts":[[1996,10]]}},"alternative-id":["10.1136\/jmg.33.10.869"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.10.869","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1996,10]]}}}