{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T13:08:13Z","timestamp":1777381693691,"version":"3.51.4"},"reference-count":52,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[1998,4,1]],"date-time":"1998-04-01T00:00:00Z","timestamp":891388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5588,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1998,4]]},"DOI":"10.1086\/301781","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"865-875","source":"Crossref","is-referenced-by-count":38,"title":["Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness"],"prefix":"10.1016","volume":"62","author":[{"given":"Kym M.","family":"Boycott","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William G.","family":"Pearce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria A.","family":"Musarella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard G.","family":"Weleber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy A.","family":"Maybaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David G.","family":"Birch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yozo","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rockefeller S.L.","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. Torben","family":"Bech-Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/301781_bib1","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S0888-7543(05)80289-7","article-title":"Linkage analysis in X-linked congenital stationary night blindness","volume":"14","author":"Aldred","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/301781_bib3","first-page":"31","article-title":"Localization of the \u00c5land Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis","volume":"48","author":"Alitalo","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301781_bib4","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1007\/BF00195809","article-title":"A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome","volume":"84","author":"Bech-Hansen","year":"1990","journal-title":"Hum Genet"},{"key":"10.1086\/301781_bib5","first-page":"2056","article-title":"Localization of CSNB1 to region Xp11.3-Xp11.22 proximal to MAOA, B, Human Gene Mapping 11","volume":"58","author":"Bech-Hansen","year":"1991","journal-title":"Cytogenet Cell Genet"},{"key":"10.1086\/301781_bib6","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/0888-7543(92)90394-8","article-title":"Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7","volume":"12","author":"Bech-Hansen","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/301781_bib7","first-page":"71","article-title":"Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity","volume":"52","author":"Bech-Hansen","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301781_bib54","doi-asserted-by":"crossref","unstructured":"Bech-Hansen NT, Boycott NM, Gratton KJ, Ross DA, Pearce WG. Localization of the gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. Hum Genet (in press)","DOI":"10.1007\/s004390050794"},{"key":"10.1086\/301781_bib8","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1136\/jmg.31.7.580","article-title":"Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB","volume":"31","author":"Bergen","year":"1994","journal-title":"Med Genet"},{"key":"10.1086\/301781_bib9","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1006\/geno.1993.1504","article-title":"Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3","volume":"18","author":"Bergen","year":"1993","journal-title":"Genomics"},{"key":"10.1086\/301781_bib10","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1093\/hmg\/4.5.931","article-title":"Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region","volume":"4","author":"Bergen","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/301781_bib11","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/BF00225077","article-title":"Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)","volume":"95","author":"Berger","year":"1995","journal-title":"Hum Genet"},{"key":"10.1086\/301781_bib12","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1006\/geno.1996.0224","article-title":"A 2-Megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-11.22 from ZNF21 to DXS255","volume":"33","author":"Boycott","year":"1996","journal-title":"Genomics"},{"issue":"Suppl 55","key":"10.1086\/301781_bib13","first-page":"A255","article-title":"Development of a YAC contig covering the minimal region of a CSNB1 locus in Xp11","author":"Boycott","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301781_bib14","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1159\/000134555","article-title":"Integration of 101 DNA markers across human Xp11 using a panel of somatic cell hybrids","volume":"76","author":"Boycott","year":"1997","journal-title":"Cytogenet Cell Genet"},{"key":"10.1086\/301781_bib15","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1038\/ng0494-391","article-title":"Integrated human genome\u2013wide maps constructed using the CEPH reference panel","volume":"6","author":"Buetow","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/301781_bib16","first-page":"449","article-title":"Congenital stationary night blindness","volume":"72","author":"Carr","year":"1974","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1086\/301781_bib17","first-page":"497","article-title":"Rhodopsin and the electrical activity of the retina in congenital stationary night blindness","volume":"5","author":"Carr","year":"1966","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1086\/301781_bib18","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1136\/jmg.30.10.857","article-title":"Disease gene mapping in isolated human populations: the example of Finland","volume":"30","author":"de la Chapelle","year":"1993","journal-title":"J Med Genet"},{"key":"10.1086\/301781_bib19","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1038\/ng0793-280","article-title":"Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness","volume":"4","author":"Dryja","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/301781_bib20","series-title":"Mennonites in Canada, 1786-1920: the history of a separate people","author":"Epp","year":"1974"},{"key":"10.1086\/301781_bib21","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0594-64","article-title":"Heterozygous missense mutation in the rod cGMP phosphodiesterase \u03b2-subunit gene in autosomal dominant stationary night blindness","volume":"7","author":"Gal","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/301781_bib22","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","year":"1989","journal-title":"Hum Genet"},{"key":"10.1086\/301781_bib24","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1136\/jmg.30.12.1044","article-title":"Genetic mapping of a cone and rod dysfunction (\u00c5land Island eye disease) to the proximal short arm of the human X chromosome","volume":"30","author":"Glass","year":"1993","journal-title":"J Med Genet"},{"key":"10.1086\/301781_bib25","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng0694supp-246","article-title":"The 1993\u20131994 G\u00e9n\u00e9thon human genetic linkage map","volume":"7","author":"Gyapay","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/301781_bib26","series-title":"Molecular genetics of inherited eye disorders","first-page":"277","article-title":"Congenital stationary night blindness: a critical review for molecular approaches","author":"H\u00e9on","year":"1994"},{"issue":"Suppl 59","key":"10.1086\/301781_bib27","first-page":"A263","article-title":"RPGR mutation analysis in patients with retinitis pigmentosa and congenital stationary night blindness","author":"Herrmann","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301781_bib28","first-page":"1173","article-title":"Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1)","volume":"55","author":"Hong","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301781_bib29","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1126\/science.2570460","article-title":"Identification of the cystic fibrosis gene: genetic analysis","volume":"245","author":"Kerem","year":"1989","journal-title":"Science"},{"key":"10.1086\/301781_bib30","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1001\/archopht.1988.01060140581027","article-title":"X-linked congenital stationary night blindness: review and report of a family with hyperopia","volume":"106","author":"Khouri","year":"1988","journal-title":"Arch Ophthalmol"},{"key":"10.1086\/301781_bib31","first-page":"391","article-title":"Congenital stationary night blindness","volume":"Vol 2","author":"Krill","year":"1977"},{"key":"10.1086\/301781_bib32","first-page":"2075","article-title":"The locus for X-chromosomal congenital stationary night blindness is closely linked to TIMP in two families but not in a third one, Human Gene Mapping 11","volume":"58","author":"Li","year":"1991","journal-title":"Cytogenet Cell Genet"},{"key":"10.1086\/301781_bib33","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/ng0494-384","article-title":"Automated construction of genetic linkage maps using an expert system (Multimap): a human genome linkage map","volume":"6","author":"Matise","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/301781_bib34","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/ng0596-35","article-title":"A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)","volume":"13","author":"Meindl","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/301781_bib35","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1001\/archopht.1989.01070010653009","article-title":"X-linked congenital stationary night blindness","volume":"107","author":"Miyake","year":"1989","journal-title":"Arch Ophthalmol"},{"key":"10.1086\/301781_bib36","first-page":"3770","article-title":"Scotopic threshold response in complete and incomplete types of congenital stationary night blindness","volume":"35","author":"Miyake","year":"1994","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1086\/301781_bib37","first-page":"81","article-title":"On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness","volume":"31","author":"Miyake","year":"1987","journal-title":"Jpn J Ophthalmol"},{"key":"10.1086\/301781_bib38","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","year":"1986","journal-title":"Arch Ophthalmol"},{"key":"10.1086\/301781_bib39","first-page":"792","article-title":"Assignment of the gene for incomplete congenital stationary night blindness (CSBN2) to proximal Xp","volume":"33","author":"Musarella","year":"1992","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1086\/301781_bib40","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/0888-7543(89)90114-6","article-title":"Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3","volume":"5","author":"Musarella","year":"1989","journal-title":"Genomics"},{"key":"10.1086\/301781_bib41","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1159\/000134135","article-title":"Report of the Sixth International Workshop on X Chromosome Mapping 1995","volume":"71","author":"Nelson","year":"1995","journal-title":"Cytogenet Cell Genet"},{"key":"10.1086\/301781_bib42","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1126\/science.1439770","article-title":"A comprehensive genetic linkage map of the human genome","volume":"258","author":"NIH\/CEPH Collaborative Mapping Group","year":"1992","journal-title":"Science"},{"key":"10.1086\/301781_bib43","first-page":"3","article-title":"Variable expressivity in X-linked congenital stationary night blindness","volume":"25","author":"Pearce","year":"1990","journal-title":"Can J Ophthalmol"},{"key":"10.1086\/301781_bib44","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/367639a0","article-title":"Rhodopsin mutation G90D and a molecular mechanism for congenital stationary night blindness","volume":"367","author":"Rao","year":"1994","journal-title":"Nature"},{"key":"10.1086\/301781_bib45","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1093\/hmg\/5.7.1035","article-title":"Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1","volume":"5","author":"Roepman","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/301781_bib46","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0161-6420(92)31902-5","article-title":"Affected females in X-linked congenital stationary night blindness","volume":"99","author":"Ruttum","year":"1992","journal-title":"Ophthalmology"},{"key":"10.1086\/301781_bib47","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1101\/gr.6.11.1056","article-title":"Long range map of 3.5 Mb region in Xp11.23-22 with a sequence ready map from a 1.1 Mb gene-rich interval","volume":"6","author":"Schindelhauer","year":"1996","journal-title":"Genome Res"},{"key":"10.1086\/301781_bib48","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/0888-7543(91)90315-6","article-title":"\u00c5land eye disease: linkage data","volume":"10","author":"Schwartz","year":"1991","journal-title":"Genomics"},{"key":"10.1086\/301781_bib49","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1101\/gr.6.11.1093","article-title":"Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping","volume":"6","author":"Thiselton","year":"1996","journal-title":"Genome Res"},{"key":"10.1086\/301781_bib50","doi-asserted-by":"crossref","first-page":"2383","DOI":"10.1016\/0042-6989(95)00006-L","article-title":"The electoretinographic diagnosis of the incomplete form of congenital stationary night blindness","volume":"35","author":"Tremblay","year":"1994","journal-title":"Vision Res"},{"key":"10.1086\/301781_bib51","first-page":"159","article-title":"Human DNA polymorphisms based on length variations in simple-sequence tandem repeats","volume":"Vol 1","author":"Weber","year":"1990"},{"key":"10.1086\/301781_bib52","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1001\/archopht.1989.01070020236032","article-title":"\u00c5land Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21","volume":"107","author":"Weleber","year":"1989","journal-title":"Arch Ophthalmol"},{"key":"10.1086\/301781_bib53","first-page":"309","article-title":"Low-frequency component of the photopic ERG in patients with X-linked congenital stationary night blindness","volume":"6","author":"Young","year":"1991","journal-title":"Clin Vision Sci"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707609793?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707609793?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T17:51:09Z","timestamp":1555005069000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707609793"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,4]]},"references-count":52,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1998,4]]}},"alternative-id":["S0002929707609793"],"URL":"https:\/\/doi.org\/10.1086\/301781","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1998,4]]}}}