{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T09:10:17Z","timestamp":1698397817639},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":3693,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,4,24]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have characterized two intragenic polymorphisms in the neurofibromatosis type 1 (NF1) gene by direct sequencing of PCR products. The variants for these polymorphisms were initially detected on Hydrolink gels. One of the polymorphisms involves a G to A transition in intron 41 at the 28th base upstream of exon 42 with an observed \u2018G\u2019\/\u2018A\u2019 heterozygosity of 0.42. The other polymorphism is a T to C transition in intron 16 at the 16th base upstream of exon 17 with an observed \u2018T\u2019\/\u2018C\u2019 heterozygosity of 0.09. In combination with other documented polymorphisms in the NF1 gene, these variants should assist in genetic analysis of NF1 families. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320600211","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:17:45Z","timestamp":1118513865000},"page":"147-149","source":"Crossref","is-referenced-by-count":4,"title":["Two single base polymorphisms in introns 41 and 16 of the NF1 gene"],"prefix":"10.1002","volume":"60","author":[{"given":"Ming Hong","family":"Shen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meena","family":"Upadhyaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00222716"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.1.197-a"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.13.1.487"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90151-4"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90253-B"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.11.704"},{"key":"e_1_2_1_8_1","first-page":"1038","article-title":"Linkage disequilibrium in the neurofibromatosis type 1 (NF1) region: Implication for gene mapping","volume":"53","author":"Jorde LB","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00212039"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01247353"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90408-5"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.4.485"},{"key":"e_1_2_1_13_1","volume-title":"Neurofibromatosis: Phenotype, Natural History and Pathogenesis","author":"Riccardi VM","year":"1986"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01247346"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.11.1861"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201726"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.9.735"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.3.180"},{"key":"e_1_2_1_19_1","doi-asserted-by":"crossref","unstructured":"UpadhyayaM ShawDJ HarperPS(1994): Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene.Hum Mutat(in press).","DOI":"10.1002\/humu.1380040202"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90252-A"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ne.16.030193.001151"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2134734"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/353864a0"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.13.3764"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.9.1491"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320600211","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320600211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T22:35:04Z","timestamp":1698359704000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320600211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,4,24]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,4,24]]}},"alternative-id":["10.1002\/ajmg.1320600211"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320600211","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,4,24]]}}}