{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T21:07:15Z","timestamp":1774472835163,"version":"3.50.1"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1998,7,1]],"date-time":"1998-07-01T00:00:00Z","timestamp":899251200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1998,7]]},"DOI":"10.1038\/947","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T08:50:09Z","timestamp":1027673409000},"page":"264-267","source":"Crossref","is-referenced-by-count":395,"title":["Loss-of-function mutations in a calcium-channel \u03b11-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness"],"prefix":"10.1038","volume":"19","author":[{"given":"N. Torben","family":"Bech-Hansen","sequence":"first","affiliation":[]},{"given":"Margaret J.","family":"Naylor","sequence":"additional","affiliation":[]},{"given":"Tracy A.","family":"Maybaum","sequence":"additional","affiliation":[]},{"given":"William G.","family":"Pearce","sequence":"additional","affiliation":[]},{"given":"Ben","family":"Koop","sequence":"additional","affiliation":[]},{"given":"Gerald A.","family":"Fishman","sequence":"additional","affiliation":[]},{"given":"Marilyn","family":"Mets","sequence":"additional","affiliation":[]},{"given":"Maria A.","family":"Musarella","sequence":"additional","affiliation":[]},{"given":"Kym M.","family":"Boycott","sequence":"additional","affiliation":[]}],"member":"297","reference":[{"key":"BFng0798_264_CR1","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1201\/b14734-12","volume-title":"Molecular Genetics of Inherited Eye Disorders","author":"E H\u00e9on","year":"1994","unstructured":"H\u00e9on, E. & Musarella, M.A. Congenital stationary night blindness: a critical review for molecular approaches. in Molecular Genetics of Inherited Eye Disorders (eds Wright, A.F. & Jay, B.) 277\u2013301 (Harwood Academic Publishers, London, 1994)."},{"key":"BFng0798_264_CR2","first-page":"3","volume":"25","author":"WG Pearce","year":"1990","unstructured":"Pearce, W.G., Reedyk, M. & Coupland, S.G. Variable expressivity in X-linked congenital stationary night blindness. Can. J. Ophthalmol. 25, 3\u201310 (1990).","journal-title":"Can. J. Ophthalmol."},{"key":"BFng0798_264_CR3","first-page":"448","volume":"72","author":"RE Carr","year":"1974","unstructured":"Carr, R.E. Congenital stationary night blindness. Trans. Am. Ophthalmol. Soc. 72, 448\u2013487 (1974).","journal-title":"Trans. Am. Ophthalmol. Soc."},{"key":"BFng0798_264_CR4","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1001\/archopht.1986.01050190071042","volume":"104","author":"Y Miyake","year":"1986","unstructured":"Miyake, Y., Yagasaki, K., Horiguchi, M., Kawase, Y. & Kanda, T. Congenital stationary night blindness with negative electroretinogram. Arch. Ophthalmol. 104, 1013\u20131020 (1986).","journal-title":"Arch. Ophthalmol."},{"key":"BFng0798_264_CR5","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1086\/301781","volume":"62","author":"KM Boycott","year":"1998","unstructured":"Boycott, K.M. et al. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am. J. Hum. Genet. 62, 865\u2013 875 (1998).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0798_264_CR6","unstructured":"Bech-Hansen, N.T., Boycott, K.M., Gratton, K.J., Ross, D. & Pearce, W.G. Localization of a gene for incomplete X-linked congenital stationary night blindness in Xp11.23 to the interval betweeen DXS6849 and DXS8023. Human Genet., (in press)."},{"key":"BFng0798_264_CR7","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1006\/geno.1996.0224","volume":"33","author":"KM Boycott","year":"1996","unstructured":"Boycott, K.M., Halley, G.R., Schlessinger, D. & Bech-Hansen, N.T. A 2-megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-p11.22 from ZNF21 to DXS255. Genomics  33, 488\u2013497 (1996).","journal-title":"Genomics"},{"key":"BFng0798_264_CR8","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1101\/gr.6.11.1056","volume":"6","author":"D Schindelhauer","year":"1996","unstructured":"Schindelhauer, D. et al. Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. Genome Res. 6 , 1056\u20131069 (1996).","journal-title":"Genome Res."},{"key":"BFng0798_264_CR9","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1006\/geno.1997.5167","volume":"48","author":"KM Boycott","year":"1998","unstructured":"Boycott, K.M. et al. Construction of a 1.5 Mb bacterial artificial chromosome (BAC) contig in Xp11.23, a region of high gene content. Genomics 48, 369\u2013372 (1998).","journal-title":"Genomics"},{"key":"BFng0798_264_CR10","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1038\/940","volume":"19","author":"T Strom","year":"1998","unstructured":"Strom, T. et al. An L-type calcium channel gene mutated in incomplete X-linked congenital stationary night blindness. Nature Genet. 19, 260\u2013 263 (1998).","journal-title":"Nature Genet."},{"key":"BFng0798_264_CR11","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1073\/pnas.81.15.4851","volume":"81","author":"J Nathans","year":"1984","unstructured":"Nathans, J. & Hogness, D.S. Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc. Natl Acad. Sci. USA  81, 193\u2013202 ( 1984).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng0798_264_CR12","first-page":"71","volume":"52","author":"NT Bech-Hansen","year":"1993","unstructured":"Bech-Hansen, N.T. & Pearce, W.G. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity. Am. J. Hum. Genet. 52, 71\u201377 (1993).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0798_264_CR13","unstructured":"Epp, F.H. Mennonites in Canada 1786-1920: The History of a Separate People (Macmillan Company of Canada, 1975)."},{"key":"BFng0798_264_CR14","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/0896-6273(92)90109-Q","volume":"8","author":"ME Williams","year":"1992","unstructured":"Williams, M.E. et al. Structure and functional expression of \u03b11, \u03b12, and \u03b2 subunits of a novel human neuronal calcium channel subtype. Neuron  8, 71\u201384 ( 1992).","journal-title":"Neuron"},{"key":"BFng0798_264_CR15","first-page":"113","volume-title":"Voltage-gated calcium channels. in Ligand- and Voltage-Gated Ion Channels","author":"A Stea","year":"1995","unstructured":"Stea, A., Wah, S.T. & Snutch, T.P. Voltage-gated calcium channels. in Ligand- and Voltage-Gated Ion Channels  (ed. North, R.A.) 113\u2013151 (CRC Press, Inc., Boca Raton, Florida, 1995)."},{"key":"BFng0798_264_CR16","doi-asserted-by":"publisher","first-page":"2365","DOI":"10.1002\/j.1460-2075.1996.tb00592.x","volume":"15","author":"A Schuster","year":"1996","unstructured":"Schuster, A. et al. The IVS6 segment of the L-type calcium channel is critical for the action of dihydropyridines and phenylalkylamines. EMBO J.  15, 2365\u20132370 (1996).","journal-title":"EMBO J."},{"key":"BFng0798_264_CR17","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1006\/geno.1997.4941","volume":"45","author":"SE Fisher","year":"1997","unstructured":"Fisher, S.E. et al. Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. Genomics  45, 340\u2013347 (1997).","journal-title":"Genomics"},{"key":"BFng0798_264_CR18","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/0959-4388(92)90111-W","volume":"2","author":"TP Snutch","year":"1992","unstructured":"Snutch, T.P. & Reniner, P.B. Ca2+ channels: diversity of form and function. Curr. Opin. Neurobiol.  2, 247\u2013253 (1992).","journal-title":"Curr. Opin. Neurobiol."},{"key":"BFng0798_264_CR19","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1146\/annurev.bi.64.070195.002425","volume":"64","author":"WA Catterall","year":"1995","unstructured":"Catterall, W.A. Structure and function of voltage-gated ion channels. Annu. Rev. Biochem.  64, 493\u2013531 ( 1995).","journal-title":"Annu. Rev. Biochem."},{"key":"BFng0798_264_CR20","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1038\/336134a0","volume":"336","author":"T Tanabe","year":"1988","unstructured":"Tanabe, T., Beam, K.G., Powell, J.A. & Numa, S. Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA. Nature 336, 134\u2013 139 (1988).","journal-title":"Nature"},{"key":"BFng0798_264_CR21","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1038\/340230a0","volume":"340","author":"A Mikami","year":"1989","unstructured":"Mikami, A. et al. Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel. Nature 340, 230\u2013 233 (1989).","journal-title":"Nature"},{"key":"BFng0798_264_CR22","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1016\/S0168-9525(97)01370-X","volume":"14","author":"JL Doyle","year":"1998","unstructured":"Doyle, J.L. & Stubbs, L. Ataxia, arrythmia and ion-channel gene defects. Trends Genet. 14, 92\u2013 98 (1998).","journal-title":"Trends Genet."},{"key":"BFng0798_264_CR23","doi-asserted-by":"publisher","first-page":"7868","DOI":"10.1523\/JNEUROSCI.16-24-07868.1996","volume":"16","author":"LA Smith","year":"1996","unstructured":"Smith, L.A. et al. A Drosophila calcium channel \u03b11 subunit gene maps to a genetic locus associated with behavioral and visual defects. J. Neurosci.  16, 7868\u20137879 ( 1996).","journal-title":"J. Neurosci."},{"key":"BFng0798_264_CR24","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1085\/jgp.93.1.101","volume":"93","author":"RA Stockton","year":"1989","unstructured":"Stockton, R.A. & Slaughter, M.M. B-wave of the electroretinogram: a reflection of bipolar cell activity. J. Gen. Physiol.  93, 101\u2013122 (1989).","journal-title":"J. Gen. Physiol."},{"key":"BFng0798_264_CR25","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1017\/S0952523800002431","volume":"11","author":"PA Sieving","year":"1994","unstructured":"Sieving, P.A., Murayama, K. & Naarendorp, F. Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave. Vis. Neurosci. 11, 519\u2013532 ( 1994).","journal-title":"Vis. Neurosci."},{"key":"BFng0798_264_CR26","volume-title":"Electrophysiologic Testing in Disorders of the Retina, Optic Nerve, and Visual Pathway","author":"GA Fishman","year":"1990","unstructured":"Fishman, G.A. & Sokol, S. Electrophysiologic Testing in Disorders of the Retina, Optic Nerve, and Visual Pathway (Am. Acad. Ophthal., San Francisco, 1990)."},{"key":"BFng0798_264_CR27","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1085\/jgp.107.5.621","volume":"107","author":"MF Wilkinson","year":"1996","unstructured":"Wilkinson, M.F. & Barnes, S. The dihydropyridine-sensitive calcium channel subtype in cone photoreceptors. J. Gen. Physiol.  107, 621\u2013630 (1996).","journal-title":"J. Gen. Physiol."},{"key":"BFng0798_264_CR28","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1152\/jn.1994.71.2.656","volume":"71","author":"T Yagi","year":"1994","unstructured":"Yagi, T. & Macleish, P.R. Ionic conductances of monkey solitary cone inner segments. J. Neurophysiol. 71, 656\u2013665 (1994).","journal-title":"J. Neurophysiol."},{"key":"BFng0798_264_CR29","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1016\/0896-6273(94)90252-6","volume":"13","author":"F Rieke","year":"1994","unstructured":"Rieke, F. & Schwartz, E.A. A cGMP-gated current can control exocytosis at cone synapses. Neuron 13, 863\u2013873 (1994).","journal-title":"Neuron"},{"key":"BFng0798_264_CR30","doi-asserted-by":"publisher","first-page":"2898","DOI":"10.1523\/JNEUROSCI.13-07-02898.1993","volume":"13","author":"M Tachibana","year":"1993","unstructured":"Tachibana, M., Okada, T., Arimura, T., Koybayashi, K. & Piccolino, M. Dihydropyridine-sensitive calcium current mediates neurotransmitter release from bipolar cells of the goldfish retina . J. Neurosci. 13, 2898\u2013 2090 (1993).","journal-title":"J. Neurosci."},{"key":"BFng0798_264_CR31","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1159\/000134555","volume":"76","author":"KM Boycott","year":"1997","unstructured":"Boycott, K.M. et al. Integration of 101 DNA markers across human Xp11 using a panel of somatic cell hybrids. Cytogenet. Cell Genet. 76, 223\u2013228 (1997).","journal-title":"Cytogenet. Cell Genet."},{"key":"BFng0798_264_CR32","first-page":"227","volume":"10","author":"X Huang","year":"1994","unstructured":"Huang, X. On global sequence alignment. Computer Applic. Biosci. 10, 227\u2013235 (1994).","journal-title":"Computer Applic. Biosci."},{"key":"BFng0798_264_CR33","first-page":"406","volume":"4","author":"N Saitou","year":"1987","unstructured":"Saitou, N. & Nei, M. The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol. Biol. Evol.  4, 406\u2013425 ( 1987).","journal-title":"Mol. Biol. Evol."},{"key":"BFng0798_264_CR34","doi-asserted-by":"publisher","first-page":"783","DOI":"10.1111\/j.1558-5646.1985.tb00420.x","volume":"39","author":"J Felsenstein","year":"1985","unstructured":"Felsenstein, J. Confidence limits on phylogenies: an approach using the bootstrap. Evolution  39, 783\u2013791 ( 1985).","journal-title":"Evolution"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0798_264.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0798_264","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0798_264.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:49:37Z","timestamp":1684442977000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0798_264"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,7]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1998,7]]}},"alternative-id":["BFng0798_264"],"URL":"https:\/\/doi.org\/10.1038\/947","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,7]]}}}