{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:53:45Z","timestamp":1790891625841,"version":"4.1.0"},"reference-count":24,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2004,10,1]],"date-time":"2004-10-01T00:00:00Z","timestamp":1096588800000},"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":3213,"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":[[2004,10]]},"DOI":"10.1086\/424889","type":"journal-article","created":{"date-parts":[[2004,9,12]],"date-time":"2004-09-12T17:15:10Z","timestamp":1095009310000},"page":"639-646","source":"Crossref","is-referenced-by-count":137,"title":["Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis"],"prefix":"10.1016","volume":"75","author":[{"given":"Isabelle","family":"Perrault","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvain","family":"Hanein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Gerber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Barbet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Ducroq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helene","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Dufier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josseline","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Michel","family":"Rozet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/424889_bib4","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/0470092645.ch15","article-title":"Gene therapy for Leber congenital amaurosis","volume":"255","author":"Bennett","year":"2004","journal-title":"Novartis Found Symp"},{"key":"10.1086\/424889_bib5","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1086\/321263","article-title":"Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene","volume":"69","author":"den Hollander","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/424889_bib6","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1086\/302719","article-title":"A novel locus for Leber congenital amaurosis maps to chromosome 6q","volume":"66","author":"Dharmaraj","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/424889_bib7","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1086\/320113","article-title":"Null RPGRIP1 alleles in patients with Leber congenital amaurosis","volume":"68","author":"Dryja","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/424889_bib8","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/ng0498-311","article-title":"De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis","volume":"18","author":"Freund","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/424889_bib9","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/sj.ejhg.5200689","article-title":"Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis","volume":"9","author":"Gerber","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/424889_bib10","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1076\/opge.23.4.225.13879","article-title":"A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis","volume":"23","author":"Gerber","year":"2002","journal-title":"Ophthalmic Genet"},{"key":"10.1086\/424889_bib11","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":"10.1086\/424889_bib12","doi-asserted-by":"crossref","first-page":"45537","DOI":"10.1074\/jbc.M208882200","article-title":"Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina","volume":"277","author":"Haeseleer","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1086\/424889_bib13","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/humu.20010","article-title":"Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis","volume":"23","author":"Hanein","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1086\/424889_bib14","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/sj.ejhg.5200981","article-title":"Identification of a locus (LCA9) for Leber\u2019s congenital amaurosis on chromosome 1p36","volume":"11","author":"Keen","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/424889_bib15","doi-asserted-by":"crossref","first-page":"2959","DOI":"10.1016\/S0042-6989(03)00482-6","article-title":"Retinoid cycle in the vertebrate retina: experimental approaches and mechanisms of isomerization","volume":"43","author":"Kuksa","year":"2003","journal-title":"Vision Res"},{"key":"10.1086\/424889_bib16","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1001\/archopht.119.3.415","article-title":"Mutations in the CRB1 gene cause Leber congenital amaurosis","volume":"119","author":"Lotery","year":"2001","journal-title":"Arch Ophthalmol"},{"key":"10.1086\/424889_bib17","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":"10.1086\/424889_bib18","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":"10.1086\/424889_bib19","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/ng1296-461","article-title":"Retinal-specific guanylate cyclase gene mutations in Leber\u2019s congenital amaurosis","volume":"14","author":"Perrault","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/424889_bib20","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1086\/302335","article-title":"Different functional outcome of retGC1 and RPE65 gene mutations in Leber congenital amaurosis","volume":"64","author":"Perrault","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/424889_bib21","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/71732","article-title":"Mutations in a novel photoreceptor-pineal gene on 17p cause Leber congenital amaurosis (LCA4)","volume":"24","author":"Sohocki","year":"2000","journal-title":"Nat Genet"},{"key":"10.1086\/424889_bib22","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1007\/s004390050825","article-title":"A novel locus for Leber congenital amaurosis on chromosome 14q24","volume":"103","author":"Stockton","year":"1998","journal-title":"Hum Genet"},{"key":"10.1086\/424889_bib23","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1093\/hmg\/8.2.299","article-title":"Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function","volume":"8","author":"Swaroop","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/424889_bib24","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/S1350-9462(03)00051-X","article-title":"Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases","volume":"22","author":"Thompson","year":"2003","journal-title":"Prog Retin Eye Res"},{"key":"10.1086\/424889_bib25","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1038\/88828","article-title":"Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy","volume":"28","author":"Thompson","year":"2001","journal-title":"Nat Genet"},{"key":"10.1086\/424889_bib26","doi-asserted-by":"crossref","first-page":"8623","DOI":"10.1073\/pnas.150236297","article-title":"Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness","volume":"97","author":"Van Hooser","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/424889_bib27","doi-asserted-by":"crossref","first-page":"19173","DOI":"10.1074\/jbc.M112384200","article-title":"Recovery of visual functions in a mouse model of Leber congenital amaurosis","volume":"277","author":"Van Hooser","year":"2002","journal-title":"J Biol Chem"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707627141?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707627141?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,3]],"date-time":"2019-02-03T19:54:51Z","timestamp":1549223691000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707627141"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,10]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["S0002929707627141"],"URL":"https:\/\/doi.org\/10.1086\/424889","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2004,10]]}}}