{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:20:24Z","timestamp":1753888824720},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2001,10,1]],"date-time":"2001-10-01T00:00:00Z","timestamp":1001894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2001,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the molecular genetic abnormalities of a patient with GSD IIId presenting with progressive myopathy and cardiopathy leading to a fatal outcome. We identified two independent deletions including a 4 bp deletion (1117\u20131120) and a 98 bp deletion (1135\u20131232) in cDNA. Sequencing of the genomic DNA of the corresponding region revealed a 4 bp deletion in exon 10; however, the other 98 bp deletion corresponding to exon 11, which was deleted in cDNA, was present in genomic DNA. We therefore concluded that skipping of exon 11 occurred in the cDNA of the patient. Intron\/exon boundary analysis of the skipped exon 11 revealed no mutation in the consensus splice\u2010site sequence. If normal splicing had occurred, a stop codon would have appeared within exon 11 due to frameshift mutation. The mechanism of exon skipping observed in our patient is as yet unknown, and it is still not clear whether intraexonal mutation of the preceding exon can influence splice\u2010site selection. It is possible that a unique exon skipping occurred, preventing the appearance of a stop codon in our patient<\/jats:p>","DOI":"10.1023\/a:1012459625902","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T13:38:06Z","timestamp":1040650686000},"page":"535-545","source":"Crossref","is-referenced-by-count":9,"title":["Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId"],"prefix":"10.1002","volume":"24","author":[{"given":"H.","family":"Sugie","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology and Neuromuscular Laboratory Hamamatsu City Medical Center for Developmental Medicine  Hamakita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Fukuda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Neuromuscular Laboratory Hamamatsu City Medical Center for Developmental Medicine  Hamakita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Neuromuscular Laboratory Hamamatsu City Medical Center for Developmental Medicine  Hamakita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Sugie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Kojoh","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research National Institute of Neuroscience  Kodaira Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Nonaka","sequence":"additional","affiliation":[{"name":"National Center of Neurology and Psychiatry National Center Hospital for Mental, Nervous and Muscular Disorders  Kodaira Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,10]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0611"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(97)00291-6"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/514856"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8430317"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410050504"},{"key":"e_1_2_1_7_1","first-page":"1554","volume-title":"Myology","author":"DiMauro S","year":"1994"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81652-X"},{"key":"e_1_2_1_9_1","first-page":"540","article-title":"Nine cases of debrancher deficiency (glycogen storage disease type III) presenting with muscle weakness\u2014study on clinicobiochemical analysis","volume":"36","author":"Fukuda T","year":"1996","journal-title":"Clin Neurol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005695229464"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.20.120186.003323"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420514"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116455"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1996.1055"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00000687"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3230329"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118799"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90003-B"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)50422-7"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1012459625902","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1012459625902","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T21:31:19Z","timestamp":1694813479000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1012459625902"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,10]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2001,10]]}},"alternative-id":["10.1023\/A:1012459625902"],"URL":"https:\/\/doi.org\/10.1023\/a:1012459625902","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,10]]}}}