{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T18:54:38Z","timestamp":1697568878611},"reference-count":18,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1998,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We determined the CGG repeat length and AGG interruptions in the <jats:italic>FMR1<\/jats:italic> gene in normal Chinese subjects and patients with infantile autism and mild mental retardation. Genomic DNA was investigated by PCR and Southern hybridisation for CGG repeat number and PCR with <jats:italic>Mnl<\/jats:italic> I restriction analysis for AGG interruption. Both the normal subjects and the patients with autism have 53 CGG repeats in <jats:italic>FMR1<\/jats:italic>, and the majority have two interspersed AGG. Our normal Chinese subjects have a similar number of interspersed AGG as other populations. When compared with the normal subjects, the autism patients have less AGG interruptions and a different pattern of AGG distribution. There was a significant difference in the CGG configurations between normal subjects and patients with autism. The latter had less interspersed AGG, as in fragile X patients, but they did not have fragile X. A study on mentally retarded patients with no infantile autism should also be carried out to ascertain whether mental retardation alone may have contributed to such AGG pattern.<\/jats:p>","DOI":"10.1515\/cclm.1998.115","type":"journal-article","created":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T13:48:36Z","timestamp":1097243316000},"page":"649-653","source":"Crossref","is-referenced-by-count":3,"title":["CGG Repeat Interruptions in the <i>FMR1<\/i> Gene in Patients with Infantile Autism"],"prefix":"10.1515","volume":"36","author":[{"given":"Priscilla M. K.","family":"Poon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian L.","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly Y. C.","family":"Lai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung-Kwong","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chi-Pui","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2005,6,1]]},"reference":[{"key":"p_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170111"},{"key":"p_3","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1016\/S0022-3476(80)80552-X","volume":"96","author":"Turner G","year":"1980","journal-title":"J Pediatr"},{"key":"p_4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230128"},{"key":"p_5","doi-asserted-by":"publisher","DOI":"10.1007\/BF01531375"},{"key":"p_6","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/j.1399-0004.1984.tb00474.x","volume":"25","author":"Fryns JR","year":"1984","journal-title":"Clin Genet"},{"key":"p_7","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90514-Y"},{"key":"p_8","doi-asserted-by":"publisher","DOI":"10.1126\/science.252.5009.1097"},{"key":"p_10","first-page":"1252","volume":"59","author":"Nolin SL","year":"1996","journal-title":"Am J Hum Genet"},{"key":"p_11","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.8.1147"},{"key":"p_12","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-88"},{"key":"p_13","first-page":"351","volume":"57","author":"Zhong N","year":"1995","journal-title":"Am J Hum Genet"},{"key":"p_14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.12.2199"},{"key":"p_15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510423"},{"key":"p_16","author":"Pang CP","year":"1998","journal-title":"Am J Med Genet"},{"key":"p_18","doi-asserted-by":"publisher","DOI":"10.1001\/jama.270.13.1569"},{"key":"p_19","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.9.1543"},{"key":"p_20","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<226::AID-AJMG41>3.0.CO;2-M"},{"key":"p_21","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90134-1"}],"container-title":["cclm"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.1998.115\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.1998.115\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T14:42:40Z","timestamp":1647268960000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.1998.115\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,8,1]]},"references-count":18,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2005,6,1]]},"published-print":{"date-parts":[[1998,8,1]]}},"alternative-id":["10.1515\/CCLM.1998.115"],"URL":"https:\/\/doi.org\/10.1515\/cclm.1998.115","relation":{},"ISSN":["1434-6621"],"issn-type":[{"value":"1434-6621","type":"print"}],"subject":[],"published":{"date-parts":[[1998,8,1]]}}}