{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:32:53Z","timestamp":1790872373292,"version":"4.1.0"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1997,6,1]]},"DOI":"10.1093\/hmg\/6.6.909","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T22:35:07Z","timestamp":1027722907000},"page":"909-912","source":"Crossref","is-referenced-by-count":73,"title":["A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans"],"prefix":"10.1093","volume":"6","author":[{"given":"Joy D.","family":"Cogan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa A.","family":"Prince","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somsong","family":"Lekhakula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Bundey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aree","family":"Futrakul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor M. S.","family":"McCarthy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"John A.","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"key\n\t\t\t\t20170809110937_ref1","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1093\/nar\/10.2.459","article-title":"A catalogue of splice junction sequences","volume":"10","year":"1982","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170809110937_ref2","first-page":"303","volume-title":"The RNA World","year":"1993"},{"key":"key\n\t\t\t\t20170809110937_ref3","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1146\/annurev.ge.23.120189.002523","article-title":"Alternative splicing in the control of gene expression","volume":"23","year":"1989","journal-title":"Annu. Rev. Genet."},{"key":"key\n\t\t\t\t20170809110937_ref4","first-page":"1261","article-title":"Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein","volume":"79","year":"1994","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"key\n\t\t\t\t20170809110937_ref5","first-page":"3591","article-title":"A recurring dominant-negative mutation causes autosomal dominant growth hormone deficiency","volume":"80","year":"1995","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"key\n\t\t\t\t20170809110937_ref6","first-page":"1247","article-title":"Screening for growth hormone (GH) splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis","volume":"80","year":"1995","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"key\n\t\t\t\t20170809110937_ref7","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1136\/adc.49.1.55","article-title":"Isolated growth hormone deficiency. Two families with autosomal inheritance","volume":"49","year":"1974","journal-title":"Arch. Disease Childhood"},{"key":"key\n\t\t\t\t20170809110937_ref8","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1093\/nar\/19.3.689","article-title":"A simple sequence repeat polymorphism at the human growth hormone locus","volume":"19","year":"1991","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170809110937_ref9","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/0888-7543(89)90271-1","article-title":"The human growth hormone locus: nucleotide sequence, biology, and evolution","volume":"4","year":"1989","journal-title":"Genomics"},{"key":"key\n\t\t\t\t20170809110937_ref10","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1126\/science.2448875","article-title":"Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase","volume":"239","year":"1988","journal-title":"Science"},{"key":"key\n\t\t\t\t20170809110937_ref11","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","article-title":"DNA sequencing with chain-terminating inhibitors","volume":"74","year":"1977","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170809110937_ref12","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1073\/pnas.82.2.488","article-title":"Rapid and efficient site-specific mutagenesis without phenotypic selection","volume":"82","year":"1985","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170809110937_ref13","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/0076-6879(87)54085-X","article-title":"Rapid and efficient site-specific mutagenesis without phenotypic selection","volume":"154","year":"1987","journal-title":"Methods Enzymol."},{"key":"key\n\t\t\t\t20170809110937_ref14","first-page":"023","article-title":"Inherited defects in growth hormone synthesis and action","volume-title":"The Metabolic Basis of Inherited Disease","year":"1995"},{"key":"key\n\t\t\t\t20170809110937_ref15","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/0022-2836(92)90685-D","article-title":"G+C-rich tract in 5\u2032 end of human introns","volume":"227","year":"1992","journal-title":"J. Mol. Biol."},{"key":"key\n\t\t\t\t20170809110937_ref16","doi-asserted-by":"crossref","first-page":"3501","DOI":"10.1093\/nar\/23.17.3501","article-title":"An intronic (A\/U)GGG repeat enhances the splicing of an alternative intron of the chicken \u03b2-tropomyosin pre-mRNA","volume":"23","year":"1995","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170809110937_ref17","doi-asserted-by":"crossref","first-page":"3545","DOI":"10.1021\/bi952298p","article-title":"Origins of binding specificity of the A1 heterogeneous nuclear ribonucleoprotein","volume":"35","year":"1996","journal-title":"Biochemistry"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/6\/6\/909\/19490315\/6-6-909.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,9]],"date-time":"2017-08-09T15:09:47Z","timestamp":1502291387000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/6\/6\/909\/2901236\/A-Novel-Mechanism-of-Aberrant-PremRNA-Splicing-in"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,6,1]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1997,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/6.6.909","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,6,1]]}}}