{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T22:41:15Z","timestamp":1698360075239},"reference-count":49,"publisher":"Hindawi Limited","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":8644,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[1992]]},"DOI":"10.1002\/humu.1380010605","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T23:06:36Z","timestamp":1118531196000},"page":"478-485","source":"Crossref","is-referenced-by-count":4,"title":["Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis"],"prefix":"10.1155","volume":"1","author":[{"given":"Olaf","family":"Riess","sequence":"first","affiliation":[]},{"given":"Bernhard","family":"Weber","sequence":"additional","affiliation":[]},{"given":"Anne","family":"Noeremolle","sequence":"additional","affiliation":[]},{"given":"Rafig A.","family":"Shaikh","sequence":"additional","affiliation":[]},{"given":"Michael R.","family":"Hayden","sequence":"additional","affiliation":[]},{"given":"Maria A.","family":"Musarella","sequence":"additional","affiliation":[]}],"member":"98","reference":[{"key":"10.1002\/humu.1380010605-BIB1","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1126\/science.210508","volume":"201","author":"Aguirre","year":"1978","journal-title":"Science"},{"key":"10.1002\/humu.1380010605-BIB2","first-page":"1","volume":"43","author":"Alstrom","year":"1957","journal-title":"Hereditas"},{"key":"10.1002\/humu.1380010605-BIB3","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/0014-5793(91)80095-K","volume":"278","author":"Baehr","year":"1991","journal-title":"FEBS"},{"key":"10.1002\/humu.1380010605-BIB4","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/0888-7543(91)90008-3","volume":"11","author":"Blanton","year":"1991","journal-title":"Genomics"},{"key":"10.1002\/humu.1380010605-BIB5","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/347677a0","volume":"347","author":"Bowes","year":"1990","journal-title":"Nature"},{"key":"10.1002\/humu.1380010605-BIB6","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1016\/0014-4835(91)90213-X","volume":"53","author":"Cotran","year":"1991","journal-title":"Exp Eye Res"},{"key":"10.1002\/humu.1380010605-BIB7","doi-asserted-by":"crossref","first-page":"9370","DOI":"10.1073\/pnas.88.20.9370","volume":"88","author":"Dryja","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380010605-BIB8","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1016\/0002-9394(71)90009-2","volume":"72","author":"Edwards","year":"1971","journal-title":"Am J Ophthalmol"},{"key":"10.1002\/humu.1380010605-BIB9","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1126\/science.186.4162.449","volume":"186","author":"Farber","year":"1974","journal-title":"Science"},{"key":"10.1002\/humu.1380010605-BIB10","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/0896-6273(92)90173-B","volume":"9","author":"Farber","year":"1992","journal-title":"Neuron"},{"key":"10.1002\/humu.1380010605-BIB11","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0888-7543(90)90223-H","volume":"8","author":"Farrar","year":"1990","journal-title":"Genomics"},{"key":"10.1002\/humu.1380010605-BIB12","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/0888-7543(91)90009-4","volume":"11","author":"Farrar","year":"1991a","journal-title":"Genomics"},{"key":"10.1002\/humu.1380010605-BIB13","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/354478a0","volume":"354","author":"Farrar","year":"1991b","journal-title":"Nature"},{"key":"10.1002\/humu.1380010605-BIB14","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1159\/000105710","volume":"14","author":"Franceschetti","year":"1954","journal-title":"Confin Neurol"},{"key":"10.1002\/humu.1380010605-BIB15","first-page":"305","volume-title":"Chorioretinal Heredodegenerations","author":"Franceschetti","year":"1974","unstructured":"(1974) Autosomal chorioretinal heredodegenerations with tapetoretinal predominance. In Chorioretinal Heredodegenerations. Springfield, IL: Charles C Thomas, pp 305-325."},{"key":"10.1002\/humu.1380010605-BIB16","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1097\/00004397-196812000-00002","volume":"8","author":"Francois","year":"1968","journal-title":"Int Ophthalmol Clin"},{"key":"10.1002\/humu.1380010605-BIB17","volume-title":"Stereoscopic Atlas of Macular Disease: Diagnosis and Treatment","author":"Gass","year":"1987","unstructured":"(1987) Stereoscopic Atlas of Macular Disease: Diagnosis and Treatment 2nd Ed. St. Louis: C. V. Mosby."},{"key":"10.1002\/humu.1380010605-BIB18","first-page":"125","volume-title":"Retinitis Pigmentosa","author":"Heckenlively","year":"1988","unstructured":"(1988) Retinitis Pigmentosa. Philadelphia: Lippincott, pp 125-149."},{"key":"10.1002\/humu.1380010605-BIB19","first-page":"97","volume-title":"Structure of the Eye","author":"Hollyfield","year":"1982","unstructured":"(1982) Selective photoreceptor degeneration during retinal development: The role of altered phosphodiesterase activity and increased levels of cyclic nucleotides. In (ed): Structure of the Eye. Amsterdam: Elsevier-North Holland, p 97."},{"key":"10.1002\/humu.1380010605-BIB20","first-page":"341","volume-title":"Retinal Degeneration: Experimental and Clinical Studies","author":"Hollyfield","year":"1985","unstructured":"(1985) Simulation of an inherited disease in the normal retina: Involvement of cyclic nucleotides. In et al. (eds): Retinal Degeneration: Experimental and Clinical Studies. New York: Alan R. Liss, pp 341-348."},{"key":"10.1002\/humu.1380010605-BIB21","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1038\/354480a0","volume":"354","author":"Kajiwara","year":"1991","journal-title":"Nature"},{"key":"10.1002\/humu.1380010605-BIB22","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1007\/BF00193589","volume":"85","author":"Kaplan","year":"1990","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380010605-BIB23","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1007\/BF01701550","volume":"17","author":"Leber","year":"1971","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10.1002\/humu.1380010605-BIB24","first-page":"1076","volume-title":"Graefe Handbuch der Gesamten Augenheilkunde","volume":"2","author":"Leber","year":"1915","unstructured":"(1915) Die Krankheiten der Netzhaut. In (ed): Graefe Handbuch der Gesamten Augenheilkunde, Vol 2. Leipzig, Germany: W. Engelmann, pp 1076-1225."},{"key":"10.1002\/humu.1380010605-BIB25","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1111\/j.1399-0004.1973.tb01154.x","volume":"4","author":"Leighton","year":"1973","journal-title":"Clin Genet"},{"key":"10.1002\/humu.1380010605-BIB26","doi-asserted-by":"crossref","first-page":"12955","DOI":"10.1016\/S0021-9258(19)38252-3","volume":"265","author":"Lipkin","year":"1990","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380010605-BIB27","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1126\/science.193183","volume":"196","author":"Lolley","year":"1977","journal-title":"Science"},{"key":"10.1002\/humu.1380010605-BIB28","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0002-9394(77)90187-8","volume":"83","author":"Margolis","year":"1977","journal-title":"Am J Ophthalmol"},{"key":"10.1002\/humu.1380010605-BIB29","first-page":"1172","volume-title":"Mendelian Inheritance in man","author":"McKusick","year":"1988","unstructured":"(1988) Mendelian Inheritance in man. Baltimore: Johns Hopkins University Press, p 1172."},{"key":"10.1002\/humu.1380010605-BIB30","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/0888-7543(89)90031-1","volume":"5","author":"McWilliam","year":"1989","journal-title":"Genomics"},{"key":"10.1002\/humu.1380010605-BIB31","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/0888-7543(92)90258-T","volume":"13","author":"Michaud","year":"1992","journal-title":"Genomics"},{"key":"10.1002\/humu.1380010605-BIB32","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/0002-9394(77)90188-X","volume":"83","author":"Mizuno","year":"1977","journal-title":"Am J Ophthalmol"},{"key":"10.1002\/humu.1380010605-BIB33","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1001\/archopht.1978.03910050424004","volume":"96","author":"Noble","year":"1978","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.1380010605-BIB34","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/ajmg.1320350434","volume":"35","author":"Olsson","year":"1990","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.1380010605-BIB35","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1073\/pnas.86.8.2766","volume":"86","author":"Orita","year":"1989a","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380010605-BIB36","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","volume":"5","author":"Orita","year":"1989b","journal-title":"Genomics"},{"key":"10.1002\/humu.1380010605-BIB37","doi-asserted-by":"crossref","first-page":"8322","DOI":"10.1073\/pnas.88.19.8322","volume":"88","author":"Pittler","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380010605-BIB38","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/0888-7543(90)90567-E","volume":"6","author":"Pittler","year":"1990","journal-title":"Genomics"},{"key":"10.1002\/humu.1380010605-BIB39","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1038\/ng0592-104","volume":"1","author":"Riess","year":"1992a","journal-title":"Nature (Gen)"},{"key":"10.1002\/humu.1380010605-BIB40","first-page":"755","volume":"51","author":"Riess","year":"1992b","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380010605-BIB41","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1126\/science.239.4839.487","volume":"239","author":"Saiki","year":"1988","journal-title":"Science"},{"key":"10.1002\/humu.1380010605-BIB42","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1001\/archopht.1959.00940090213003","volume":"61","author":"Schappert-Kimmijser","year":"1959","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.1380010605-BIB43","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1136\/bmj.1.5169.293","volume":"i","author":"Sorby","year":"1960","journal-title":"Br Med J"},{"key":"10.1002\/humu.1380010605-BIB44","doi-asserted-by":"crossref","first-page":"4009","DOI":"10.1093\/nar\/19.14.4009","volume":"19","author":"Spinardi","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.1380010605-BIB45","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/338070a0","volume":"338","author":"Travis","year":"1989","journal-title":"Nature"},{"key":"10.1002\/humu.1380010605-BIB46","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/0378-1119(90)90035-P","volume":"88","author":"Tuteja","year":"1990","journal-title":"Gene"},{"key":"10.1002\/humu.1380010605-BIB47","first-page":"1236","volume":"19","author":"Ulshafer","year":"1980","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.1380010605-BIB48","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1111\/j.1755-3768.1963.tb02444.x","volume":"41","author":"Waardenburg","year":"1963","journal-title":"Acta Ophthalmol"},{"key":"10.1002\/humu.1380010605-BIB49","doi-asserted-by":"crossref","first-page":"6263","DOI":"10.1093\/nar\/19.22.6263","volume":"19","author":"Weber","year":"1991","journal-title":"Nucleic Acids Res"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1380010605","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1380010605","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:48:07Z","timestamp":1672332487000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1380010605"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992]]},"references-count":49,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1992]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1380010605","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992]]}}}