{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T07:10:04Z","timestamp":1693465804693},"reference-count":12,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":6247,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Using pulsed\u2010field gradient\u2010gel electrophoresis (PFGE) we compared two fragile X (fra(X)) chromosomes from individuals in families that exhibit linkage heterogeneity between fra(X) and coagulation factor IX (F9). The analysis of very large restriction fragments indicated that there is a structural difference in the interval between fra(X) and F9 near the locus DXS105. Differences were observed in the Sfi I partial digestion analysis and in the Mlu I pattern of the DXS105 region. Digestion with Nru I and Sst II also showed differences between these alleles. The analyses suggest that the alleles differ in a region of &gt;200 kb. Analysis of other normal and fra(X) chromosomes will be necessary to determine whether the observed difference is a normal population variant or if it may be resonsible for the linkage heterogeneity observed between these loci.<\/jats:p>","DOI":"10.1002\/ajmg.1320300160","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:16:11Z","timestamp":1118546171000},"page":"593-600","source":"Crossref","is-referenced-by-count":8,"title":["Pulsed\u2010field gradient\u2010gel studies around the fragile site"],"prefix":"10.1002","volume":"30","author":[{"given":"Carl S.","family":"Dobkin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. Ted","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01535226"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284100"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3538420"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.7.3183"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(84)90381-6"},{"key":"e_1_2_1_7_1","first-page":"312","article-title":"Efficient isolation of X chromosome\u2010specific single\u2010copy probes from a cosmid library of a human X\/hamster hybrid cell line: Mapping of new probes close to the locus for X\u2010linked mental retardation","volume":"40","author":"Hofker MH","year":"1987","journal-title":"Amer J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/314067a0"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.suppl.r219"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279094"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.20.120186.000545"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(84)90301-5"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-9456-7_3"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320300160","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320300160","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T11:42:47Z","timestamp":1693395767000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320300160"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,5]]},"references-count":12,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1988,5]]}},"alternative-id":["10.1002\/ajmg.1320300160"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320300160","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,5]]}}}