{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T23:44:58Z","timestamp":1771371898534,"version":"3.50.1"},"reference-count":149,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[1999,1,1]],"date-time":"1999-01-01T00:00:00Z","timestamp":915148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[1999,1,1]],"date-time":"1999-01-01T00:00:00Z","timestamp":915148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","surveyophthalmol.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Survey of Ophthalmology"],"published-print":{"date-parts":[[1999,1]]},"DOI":"10.1016\/s0039-6257(98)00046-0","type":"journal-article","created":{"date-parts":[[2002,7,25]],"date-time":"2002-07-25T11:44:49Z","timestamp":1027597489000},"page":"321-334","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":186,"title":["Retinitis Pigmentosa"],"prefix":"10.1016","volume":"43","author":[{"given":"Simone","family":"Van Soest","sequence":"first","affiliation":[]},{"given":"Andries","family":"Westerveld","sequence":"additional","affiliation":[]},{"given":"Paulus T.V.M.","family":"De Jong","sequence":"additional","affiliation":[]},{"given":"Elisabeth M.","family":"Bleeker-Wagemakers","sequence":"additional","affiliation":[]},{"given":"Arthur A.B.","family":"Bergen","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1016\/S0039-6257(98)00046-0_BIB1","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng0397-236","article-title":"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy","volume":"15","author":"Allikmets","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB2","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1126\/science.277.5333.1805","article-title":"Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration","volume":"277","author":"Allikmets","year":"1997","journal-title":"Science"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB3","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1093\/hmg\/3.2.351","article-title":"Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19","volume":"3","author":"Al-Maghtheh","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB4","first-page":"864","article-title":"Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11), and association with a unique bimodal expressivity phenotype","volume":"59","author":"Al-Maghtheh","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB5","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0002-9394(14)71649-6","article-title":"Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene","volume":"124","author":"Andr\u00e9asson","year":"1997","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB6","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1136\/bjo.79.1.28","article-title":"Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS\/peripherin gene","volume":"79","author":"Apfelstedt-Sylla","year":"1995","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB7","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0014-5793(97)00517-6","article-title":"The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt\u2019s disease (ABCR)","volume":"409","author":"Azarian","year":"1997","journal-title":"FEBS Lett"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB8","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1038\/ng0298-177","article-title":"TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa","volume":"18","author":"Banerjee","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB9","first-page":"1028","article-title":"Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19","volume":"51","author":"Bascom","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB10","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1016\/0896-6273(92)90137-3","article-title":"Cloning of the cDNA for a novel photoreceptor protein (rom-1) identifies a disk rim protein family implicated in human retinopathies","volume":"8","author":"Bascom","year":"1993","journal-title":"Neuron"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB11","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1093\/hmg\/4.10.1895","article-title":"Mutation analysis of the ROM1 gene in retinitis pigmentosa","volume":"4","author":"Bascom","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB12","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1093\/hmg\/4.8.1459","article-title":"An eight locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q","volume":"4","author":"Bardien","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB13","doi-asserted-by":"crossref","first-page":"23035","DOI":"10.1016\/S0021-9258(18)50052-1","article-title":"Characterization of a plasma retinol-binding protein membrane receptor expressed in the retinal pigment epithelium","volume":"267","author":"Bavik","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB14","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/BF00214192","article-title":"Evidence against the involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families","volume":"96","author":"Bayes","year":"1995","journal-title":"Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB15","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1073\/pnas.93.2.560","article-title":"How photons start vision","volume":"93","author":"Baylor","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB16","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/309253a0","article-title":"Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28","volume":"309","author":"Bhattacharya","year":"1984","journal-title":"Nature"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB17","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/354080a0","article-title":"Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1","volume":"354","author":"Bisschof","year":"1991","journal-title":"Nature"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB18","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S0002-9394(14)70212-0","article-title":"Retinal photoreceptor dystrophies","volume":"199","author":"Bird","year":"1995","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB19","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/0888-7543(91)90008-3","article-title":"Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8","volume":"11","author":"Blanton","year":"1991","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB20","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/eye.1990.44","article-title":"Processing and transport of retinoids by the retinal pigment epithelium","volume":"4","author":"Bok","year":"1990","journal-title":"Eye"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB21","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/347677a0","article-title":"Retinal degeneration in the rd mouse is caused by a defect in the \u03b2 subunit of rod cGMP-phosphodiesterase","volume":"347","author":"Bowes","year":"1990","journal-title":"Nature"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB22","series-title":"Duane\u2019s Clinical Ophthalmology","article-title":"Hereditary pigmentary degeneration of the retina","author":"Carr","year":"1989"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB23","first-page":"764","article-title":"A new subunit of the cyclic nucleotide-gated cation channel in retinal rods","volume":"362","author":"Chen","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB24","first-page":"832","article-title":"Some cytological and initial biochemical observations on photoreceptors in retinas of rds mice","volume":"24","author":"Cohen","year":"1983","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB25","doi-asserted-by":"crossref","first-page":"32968","DOI":"10.1074\/jbc.271.51.32968","article-title":"Primary structure and expression of the human beta-subunit and related proteins of the rod photoreceptor cGMP-gated channel","volume":"271","author":"Colville","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB26","doi-asserted-by":"crossref","first-page":"4691","DOI":"10.1021\/bi00471a025","article-title":"Molecular cloning, primary structure and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disc membrane","volume":"29","author":"Connell","year":"1990","journal-title":"Biochemistry"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB27","doi-asserted-by":"crossref","first-page":"16674","DOI":"10.1016\/S0021-9258(18)55354-0","article-title":"Topological and epitope mapping of the cellular retinaldehyde-binding protein from retina","volume":"266","author":"Crabb","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB28","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1093\/hmg\/7.3.355","article-title":"Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice mutations in the Stargardt\u2019s disease","volume":"7","author":"Cremers","year":"1998","journal-title":"ABCR. Hum Mol Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB29","unstructured":"Daiger SP: http:\/\/utsph.sph.uth.tmc.edu\/www\/utsph\/Ret Net\/home.htm"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/geno.1995.0001","article-title":"Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa","volume":"30","author":"Danciger","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB31","unstructured":"De Jong PTVM, Bruyn GW, de Jong JMBV: Pigmentary retinopathy associated with neurological disease, in de Jong JMBV (ed): Handbook of Clinical Neurology. Amsterdam, Elsevier Science Publishers BV, 1991, vol 16, pp 717\u2013749"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB32","doi-asserted-by":"crossref","first-page":"3248","DOI":"10.1523\/JNEUROSCI.12-08-03248.1992","article-title":"Human rod photoreceptor cGMP-gated channel","volume":"12","author":"Dhallan","year":"1992","journal-title":"J Neurosci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB33","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1038\/343364a0","article-title":"A point mutation in the rhodopsin gene in one form of retinitis pigmentosa","volume":"343","author":"Dryja","year":"1990","journal-title":"Nature"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB34","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":"10.1016\/S0039-6257(98)00046-0_BIB35","doi-asserted-by":"crossref","first-page":"10177","DOI":"10.1073\/pnas.92.22.10177","article-title":"Mutation in the gene encoding the \u03b1-subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa","volume":"92","author":"Dryja","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB36","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1093\/hmg\/4.suppl_1.1739","article-title":"Molecular genetics of retinitis pigmentosa","volume":"4","author":"Dryja","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB37","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/ng0796-358","article-title":"Missense mutation in the gene encoding the \u03b1 subunit of rod transducin in the Nougaret form of congenital stationary night blindness","volume":"13","author":"Dryja","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB38","first-page":"1972","article-title":"Dominant and digenic mutations in the peripherin\/RDS and ROM1 genes in retinitis pigmentosa","volume":"38","author":"Dryja","year":"1997","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB39","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1006\/exer.1994.1094","article-title":"Exchange of retinol between IRBP and CRBP","volume":"59","author":"Edwards","year":"1994","journal-title":"Exp Eye Res"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB40","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1006\/exer.1993.1132","article-title":"Photoreceptor degeneration in vitamin A deprivation and retinitis pigmentosa","volume":"57","author":"Fain","year":"1993","journal-title":"Exp Eye Res"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB41","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1001\/archopht.1985.01050030062023","article-title":"Autosomal dominant retinitis pigmentosa","volume":"103","author":"Fishman","year":"1985","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB42","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S0161-6420(97)30320-0","article-title":"Serine-27-phenylalanine mutation within the peripherin\/RDS gene in a family with cone dystrophy","volume":"104","author":"Fishman","year":"1997","journal-title":"Ophthalmology"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB43","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1001\/archopht.1985.01050100078023","article-title":"Classification of congenital and early onset retinitis pigmentosa","volume":"103","author":"Foxman","year":"1985","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB44","series-title":"Chorioretinal Heredo-degenerations","author":"Franceschetti","year":"1974"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB45","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1038\/ng0795-360","article-title":"A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese","volume":"10","author":"Fuchs","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB46","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1086\/515523","article-title":"Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype","volume":"61","author":"Fujita","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB47","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0594-64","article-title":"A 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":"10.1016\/S0039-6257(98)00046-0_BIB48","doi-asserted-by":"crossref","first-page":"14213","DOI":"10.1021\/bi00043a028","article-title":"Heterologous expression of photoreceptor\/rds and Rom-1 in COS-1 cells","volume":"34","author":"Goldberg","year":"1995","journal-title":"Biochemistry"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB49","doi-asserted-by":"crossref","first-page":"6144","DOI":"10.1021\/bi960259n","article-title":"Subunit composition of the peripherin\/rds\u2013Rom-1 disk rim complex from rod photoreceptors","volume":"35","author":"Goldberg","year":"1996","journal-title":"Biochemistry"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB50","doi-asserted-by":"crossref","first-page":"13726","DOI":"10.1073\/pnas.93.24.13726","article-title":"Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin\/rds and rom-1","volume":"93","author":"Goldberg","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB51","first-page":"62","article-title":"Functional abnormalities in transgenic mice expressing a mutant rhodopsin gene","volume":"36","author":"Goto","year":"1995","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB52","doi-asserted-by":"crossref","first-page":"22029","DOI":"10.1074\/jbc.270.37.22029","article-title":"Guanylyl cyclase activating protein","volume":"270","author":"Gorczyca","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB53","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1093\/hmg\/3.6.915","article-title":"A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17","volume":"3","author":"Greenberg","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB54","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1038\/ng1097-194","article-title":"Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy","volume":"17","author":"Gu","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB55","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1038\/ng0298-174","article-title":"Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa","volume":"18","author":"Hagstrom","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB56","first-page":"1077","article-title":"Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa","volume":"35","author":"Hahn","year":"1994","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB57","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1006\/geno.1994.1212","article-title":"The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3","volume":"20","author":"Hamel","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB58","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/0014-4835(85)90179-4","article-title":"Development and degeneration of retina in rds mutant mice","volume":"41","author":"Hawkins","year":"1985","journal-title":"Exp Eye Res"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB59","first-page":"499","article-title":"Retinal degeneration in monkeys induced by deficiencies of vitamin E or A","volume":"13","author":"Hayes","year":"1974","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB60","series-title":"Retinitis Pigmentosa","first-page":"68","article-title":"Clinical findings in retinitis pigmentosa","author":"Heckenlively","year":"1988"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB61","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1038\/ng1295-468","article-title":"Autosomal recessive retinitis pigmentosa caused by mutations in the \u03b1-subunit of rod cGMP phosphodiesterase","volume":"11","author":"Huang","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB62","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/ng0297-216","article-title":"Retinopathy induced in mice by targeted disruption of the rhodopsin gene","volume":"15","author":"Humphries","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB63","first-page":"1471","article-title":"Retinoid acid","volume":"38","author":"Hyatt","year":"1997","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB64","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/ng0593-51","article-title":"A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p","volume":"4","author":"Inglehearn","year":"1993","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB65","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.35.1.1","article-title":"A linkage survey of 20 dominant retinitis pigmentosa families","volume":"35","author":"Inglehearn","year":"1998","journal-title":"J Med Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB66","first-page":"1662","article-title":"Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene","volume":"37","author":"Jacobson","year":"1996","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB67","first-page":"1983","article-title":"Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene","volume":"38","author":"Jacobson","year":"1997","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB68","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1136\/bjo.66.7.405","article-title":"On the hereditary of retinitis pigmentosa","volume":"66","author":"Jay","year":"1982","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB69","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/ng0593-54","article-title":"Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q","volume":"4","author":"Jordan","year":"1993","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB70","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1038\/354480a0","article-title":"Mutations in the retinal degeneration slow gene in autosomal dominant retinitis pigmentosa","volume":"354","author":"Kajiwara","year":"1991","journal-title":"Nature"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB71","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1038\/ng0393-208","article-title":"A null mutation in the human peripherin\/RDS gene in a family with autosomal dominant retinitis punctata albescens","volume":"3","author":"Kajiwara","year":"1993","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB72","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1126\/science.8202715","article-title":"Digenic retinitis pigmentosa due to mutations at the unlinked peripherin\/RDS and ROM1 loci","volume":"264","author":"Kajiwara","year":"1994","journal-title":"Science"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB73","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1007\/BF00193589","article-title":"Clinical and genetic heterogeneity in retinitis pigmentosa","volume":"85","author":"Kaplan","year":"1990","journal-title":"Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB74","first-page":"498","article-title":"Generation and analysis of transgenic mice expressing P216L-substituted Rds\/peripherin in rod photoreceptors","volume":"38","author":"Kedzierski","year":"1997","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB75","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1136\/bjo.79.1.23","article-title":"Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression","volume":"79","author":"Kim","year":"1995","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB76","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1021\/bi00002a031","article-title":"Interaction of the nuclear GTP-binding protein Ran with its regulatory proteins RCC1 and RanGAP1","volume":"34","author":"Klebe","year":"1995","journal-title":"Biochemistry"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB77","doi-asserted-by":"crossref","first-page":"16147","DOI":"10.1074\/jbc.270.27.16147","article-title":"Inhibition of rhodopsin kinase by recoverin","volume":"270","author":"Klenchin","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB78","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/S0092-8674(00)81104-6","article-title":"Identification and characterization of the mouse obesity gene tubby","volume":"85","author":"Kleyn","year":"1996","journal-title":"Cell"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB79","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1093\/hmg\/3.8.1401","article-title":"Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p","volume":"3","author":"Knowles","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB80","first-page":"347","article-title":"Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa","volume":"58","author":"Kojis","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB81","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1038\/ng0994-10","article-title":"Missense rhodopsin mutation in a family with recessive RP","volume":"8","author":"Kumaramanickavel","year":"1994","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB82","doi-asserted-by":"crossref","first-page":"14176","DOI":"10.1073\/pnas.93.24.14176","article-title":"Transgenic mice carrying the dominant rhodopsin mutation P347S","volume":"93","author":"Li","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB83","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1399-0004.1995.tb03943.x","article-title":"Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan","volume":"47","author":"Leutelt","year":"1995","journal-title":"Clin Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB84","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/0002-9394(74)90803-4","article-title":"Fundus albipunctatus and vitamin A deficiency","volume":"78","author":"Levy","year":"1974","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB85","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1126\/science.193183","article-title":"Cyclic GMP accumulation causes degeneration of photoreceptor cells","volume":"196","author":"Lolley","year":"1977","journal-title":"Science"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB86","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1006\/geno.1995.1133","article-title":"Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II","volume":"28","author":"Ma","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB87","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1038\/ng1097-139","article-title":"Mutations in RPE65 cause Leber\u2019s congenital amaurosis","volume":"17","author":"Marlhens","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB88","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1006\/geno.1996.4528","article-title":"A new locus for autosomal, recessive retinitis pigmentosa (RP19) maps to 1p13-p21","volume":"40","author":"Martinez-Mir","year":"1997","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB89","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1007\/s004390050456","article-title":"Putative association of a mutant ROM1 allele with retinitis pigmentosa","volume":"99","author":"Martinez-Mir","year":"1997","journal-title":"Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB90","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1098\/rspb.1987.0023","article-title":"Membrane turnover in rod photoreceptors","volume":"230","author":"Matsumoto","year":"1987","journal-title":"Proc R Soc Lond B Biol Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB91","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1038\/ng1097-198","article-title":"Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa","volume":"17","author":"Maw","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB92","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/BF00225078","article-title":"Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q","volume":"95","author":"McGuire","year":"1995","journal-title":"Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB93","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng0693-130","article-title":"Recessive mutations in the gene encoding the \u03b2-subunit of rod phosphodiesterase in patients with retinitis pigmentosa","volume":"4","author":"McLaughlin","year":"1993","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB94","doi-asserted-by":"crossref","first-page":"3249","DOI":"10.1073\/pnas.92.8.3249","article-title":"Mutation spectrum of the gene encoding the \u03b2-subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa","volume":"92","author":"McLaughlin","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB95","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":"10.1016\/S0039-6257(98)00046-0_BIB96","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1136\/jmg.33.8.714","article-title":"Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q","volume":"33","author":"Mohamed","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB97","first-page":"352","article-title":"Molecular cloning, membrane topology, and localization of bovine Rom-1 in rod and cone photoreceptor cells","volume":"37","author":"Moritz","year":"1996","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB98","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/0888-7543(90)90284-2","article-title":"Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families","volume":"8","author":"Mussarella","year":"1990","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB99","doi-asserted-by":"crossref","first-page":"5499","DOI":"10.1073\/pnas.90.12.5499","article-title":"Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene","volume":"90","author":"Naash","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB100","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1097\/00006982-199616050-00007","article-title":"Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin\/RDS gene","volume":"16","author":"Nakazawa","year":"1996","journal-title":"Retina"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB101","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1001\/archopht.116.4.498","article-title":"Arrestin gene mutations in autosomal recessive retinitis pigmentosa","volume":"116","author":"Nakazawa","year":"1998","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB102","doi-asserted-by":"crossref","first-page":"4923","DOI":"10.1021\/bi00136a001","article-title":"Rhodopsin","volume":"31","author":"Nathans","year":"1992","journal-title":"Biochemistry"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB103","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1038\/ng0393-202","article-title":"Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation of codon 167 of the RDS gene","volume":"3","author":"Nichols","year":"1993","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB104","doi-asserted-by":"crossref","first-page":"3128","DOI":"10.1073\/pnas.94.7.3128","article-title":"Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases","volume":"94","author":"North","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB105","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1073\/pnas.87.2.701","article-title":"Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus heterogeneity tests","volume":"87","author":"Ott","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB106","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/0039-6257(88)90085-9","article-title":"Retinitis pigmentosa","volume":"33","author":"Pagon","year":"1988","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB107","first-page":"704","article-title":"Evaluation of the gene encoding recoverin in patients with retinitis pigmentosa or an allied disease","volume":"38","author":"Parminder","year":"1997","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB108","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/0378-1119(94)90674-2","article-title":"Cloning and characterization of the gene encoding the cGMP-phosphodiesterase gamma-subunit of human rod photoreceptor cells","volume":"151","author":"Piriev","year":"1994","journal-title":"Gene"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB109","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/0888-7543(90)90567-E","article-title":"Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene","volume":"6","author":"Pittler","year":"1990","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB110","doi-asserted-by":"crossref","first-page":"8322","DOI":"10.1073\/pnas.88.19.8322","article-title":"Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse","volume":"88","author":"Pittler","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB111","doi-asserted-by":"crossref","first-page":"6257","DOI":"10.1016\/S0021-9258(18)42689-0","article-title":"Primary structure and chromosomal localisation of human and mouse rod photoreceptor cGMP-gated cation channel","volume":"267","author":"Pittler","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB112","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":"10.1016\/S0039-6257(98)00046-0_BIB113","first-page":"1421","article-title":"Analysis of genes coding for S-antigen, interstitional retinoid binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa","volume":"31","author":"Ringens","year":"1990","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB114","doi-asserted-by":"crossref","unstructured":"Robinson PR, Cohen GB, Zhukovsky EA, Oprian DD: Neuron 9:815\u2013830, 1992","DOI":"10.1016\/0896-6273(92)90236-7"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB115","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1093\/hmg\/5.6.827","article-title":"Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)","volume":"5","author":"Roepman","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB116","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","volume":"5","author":"Roepman","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB117","first-page":"4049","article-title":"Rhodopsin accumulation at abnormal sites in retinas of mice with a human P23H rhodopsin transgene","volume":"35","author":"Roof","year":"1994","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB118","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/ng0692-209","article-title":"A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa","volume":"1","author":"Rosenfeld","year":"1992","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB119","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/bies.950180206","article-title":"The small nuclear GTPase Ran","volume":"18","author":"Rush","year":"1996","journal-title":"Bioassays"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB120","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1038\/38750","article-title":"G-protein deactivation is rate-limiting for the shut-off of the phototransduction cascade","volume":"389","author":"Sagoo","year":"1997","journal-title":"Nature"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB121","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1006\/geno.1995.1066","article-title":"A heterozygous putative null mutation in ROM1 without a mutation in peripherin\/RDS in a family with retinitis pigmentosa","volume":"27","author":"Sakuma","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB122","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/cne.901940110","article-title":"Development and degeneration of retina in rds mutant mice","volume":"194","author":"Sanyal","year":"1980","journal-title":"J Comp Neurol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB123","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1016\/S0968-0004(97)01100-6","article-title":"Lights out","volume":"22","author":"Scott","year":"1997","journal-title":"Trends Biochem Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB124","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1002\/ajmg.1320520413","article-title":"Retinitis pigmentosa and related disorders","volume":"52","author":"Shastry","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB125","first-page":"499","article-title":"Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21","volume":"57","author":"Shugart","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB126","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1074\/jbc.270.3.1107","article-title":"The retinal pigment epithelial-specific 11-cis-retinal dehydrogenase belongs to the family of short chain alcohol dehydrogenases","volume":"270","author":"Simon","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB127","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1073\/pnas.92.3.880","article-title":"Dark-light","volume":"92","author":"Sieving","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB128","first-page":"1170","article-title":"Assignment of the rhodopsin gene to human chromosome 3","volume":"27","author":"Sparkes","year":"1986","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB129","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/0888-7543(92)90406-I","article-title":"Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to chromosome 15q26 and mouse chromosome 7","volume":"12","author":"Sparkes","year":"1992","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB130","doi-asserted-by":"crossref","first-page":"10711","DOI":"10.1016\/S0021-9258(18)99072-1","article-title":"Visual excitation and recovery","volume":"266","author":"Stryer","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB131","doi-asserted-by":"crossref","first-page":"26645","DOI":"10.1016\/S0021-9258(19)74360-9","article-title":"Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa","volume":"268","author":"Sung","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB132","doi-asserted-by":"crossref","first-page":"5818","DOI":"10.1523\/JNEUROSCI.14-10-05818.1994","article-title":"A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment","volume":"14","author":"Sung","year":"1994","journal-title":"J Neurosci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB133","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1136\/jmg.33.6.518","article-title":"A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p","volume":"33","author":"Tarttelin","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB134","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1101\/gr.6.11.1093","article-title":"Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp","volume":"6","author":"Thiselton","year":"1996","journal-title":"Genome Res"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB135","doi-asserted-by":"crossref","first-page":"3551","DOI":"10.1073\/pnas.92.8.3551","article-title":"Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration","volume":"92","author":"Tiansen","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB136","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/338070a0","article-title":"Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)","volume":"338","author":"Travis","year":"1989","journal-title":"Nature"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB137","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/0888-7543(91)90457-P","article-title":"The human retinal degeneration slow (RDS) gene","volume":"10","author":"Travis","year":"1991","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB138","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1126\/science.272.5264.1026","article-title":"Retinal degeneration in mice lacking the \u03b3 subunit of the rod cGMP phosphodiesterase","volume":"272","author":"Tsang","year":"1996","journal-title":"Science"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB139","first-page":"1236","article-title":"Sensitivity of photoreceptors to elevated levels of cGMP in the human retina","volume":"19","author":"Ulshafer","year":"1980","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB140","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/BF00218829","article-title":"A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family","volume":"97","author":"Valverde","year":"1996","journal-title":"Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB141","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1006\/geno.1994.1422","article-title":"Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population","volume":"22","author":"van Soest","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB142","doi-asserted-by":"crossref","first-page":"6263","DOI":"10.1093\/nar\/19.22.6263","article-title":"Genomic organisation and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3","volume":"19","author":"Weber","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB143","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1001\/archopht.1993.01090110097033","article-title":"Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin\/RDS gene","volume":"111","author":"Weleber","year":"1993","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB144","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/ng0393-213","article-title":"Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy","volume":"3","author":"Wells","year":"1993","journal-title":"Nat Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB145","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1136\/bjo.78.11.831","article-title":"Ocular findings associated with a 3 base pair deletion in the peripherin\/RDS gene in autosomal dominant retinitis pigmentosa","volume":"78","author":"Wroblewski","year":"1994","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB146","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1093\/hmg\/5.8.1193","article-title":"A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1","volume":"8","author":"Xu","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB147","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1007\/s004390050296","article-title":"Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285","volume":"98","author":"Xu","year":"1996","journal-title":"Hum Genet"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB148","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1006\/exer.1997.9998","article-title":"Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa","volume":"65","author":"Yamamoto","year":"1997","journal-title":"Exp Eye Res"},{"key":"10.1016\/S0039-6257(98)00046-0_BIB149","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng0297-175","article-title":"Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness","volume":"15","author":"Yamamoto","year":"1997","journal-title":"Nat Genet"}],"container-title":["Survey of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0039625798000460?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0039625798000460?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T11:18:49Z","timestamp":1758539929000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0039625798000460"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,1]]},"references-count":149,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1999,1]]}},"alternative-id":["S0039625798000460"],"URL":"https:\/\/doi.org\/10.1016\/s0039-6257(98)00046-0","relation":{},"ISSN":["0039-6257"],"issn-type":[{"value":"0039-6257","type":"print"}],"subject":[],"published":{"date-parts":[[1999,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Retinitis Pigmentosa","name":"articletitle","label":"Article Title"},{"value":"Survey of Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/S0039-6257(98)00046-0","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 1999 Elsevier Science Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}