{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T04:56:46Z","timestamp":1698382606476},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":3657,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The loci for the juvenile (<jats:italic>CLN3<\/jats:italic>) and infantile (<jats:italic>CLN1<\/jats:italic>) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively. The late\u2010infantile defect <jats:italic>CLN2<\/jats:italic> has not yet been mapped, although linkage analysis with tightly linked markers excludes it from both the JNCL and INCL loci. We have initiated a genome\u2010wide search for the LNCL gene, taking advantage of the large collection of highly polymorphic markers that has been developed through the Human Genome Initiative. The high degree of heterozygosity of these markers makes it feasible to carry out successful linkage analysis in small nuclear families, such as found in LNCL. Our current collection of LNCL pedigrees includes 19 US families and 11 Costa Rican families. To date, we have completed typing with over 50 markers on chromosomes 2, 9, 13, and 18\u201322. The results of this analysis formally exclude about 10% of the human genome as the location of the LNCL gene. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570248","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:01:48Z","timestamp":1118512908000},"page":"344-347","source":"Crossref","is-referenced-by-count":0,"title":["Genome\u2010wide search for <i>CLN2<\/i>, the gene causing late\u2010infantile neuronal ceroid\u2010lipofuscinosis (LNCL)"],"prefix":"10.1002","volume":"57","author":[{"given":"J. L.","family":"Haines","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.\u2010M. N.","family":"Boustany","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Worster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ter\u2010Minassian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Jondro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. J.","family":"Lerner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02619631"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310608"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420421"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03193.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90297-8"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90235-7"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"e_1_2_1_9_1","first-page":"88","article-title":"Linkage disequilibrium between the juvenile NCL gene (CLN3) and marker loci on chromosome 16p12.1","volume":"54","author":"Lerner TJ","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","first-page":"543","article-title":"Estimating the power of a proposed linkage study for a complex trait","volume":"44","author":"Ploughman LM","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310606"},{"key":"e_1_2_1_12_1","unstructured":"SavukoskiM KestilaM WilliamsR JarvelaI SharpJ SantavuoriP GardinerRM PeltonenL(1994): The chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinosis.Am J Hum Genet(in press)."},{"key":"e_1_2_1_13_1","first-page":"388","article-title":"Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction","volume":"44","author":"Weber JL","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","first-page":"931","article-title":"Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): Evidence that the late\u2010infantile sub\u2010type (Jansky\u2010Bielschowsky disease; CLN2) is not an alleleic form of the juvenile or infantile subtypes","volume":"53","author":"Williams R","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","first-page":"89","article-title":"Localization of juvenile, but not late\u2010infantile, neuronal ceroid lipofuscinosis on chromosome 16","volume":"52","author":"Yan WL","year":"1993","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320570248","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320570248","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T15:16:31Z","timestamp":1698333391000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320570248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,6,5]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,6,5]]}},"alternative-id":["10.1002\/ajmg.1320570248"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320570248","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,6,5]]}}}