{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T22:11:57Z","timestamp":1790028717202,"version":"4.0.1"},"reference-count":15,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[1997,5,1]],"date-time":"1997-05-01T00:00:00Z","timestamp":862444800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genomics"],"published-print":{"date-parts":[[1997,5]]},"DOI":"10.1006\/geno.1997.4662","type":"journal-article","created":{"date-parts":[[2002,10,7]],"date-time":"2002-10-07T11:11:00Z","timestamp":1033989060000},"page":"458-462","source":"Crossref","is-referenced-by-count":30,"title":["Cloning and Characterization of an Alternatively Spliced Gene in Proximal Xq28 Deleted in Two Patients with Intersexual Genitalia and Myotubular Myopathy"],"prefix":"10.1006","volume":"41","author":[{"given":"Jocelyn","family":"Laporte","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Kioschis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling-Jia","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Kretz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Carlsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemarie","family":"Poustka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Louis","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niklas","family":"Dahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1006\/geno.1997.4662_GE974662C1","doi-asserted-by":"crossref","first-page":"219","DOI":"10.3109\/10425179509030969","article-title":"Complete sequence of a 38.4 kb human cosmid insert containing the polymorphic marker DXS455 from Xq28","volume":"5","author":"Andersson","year":"1995","journal-title":"DNA Seq."},{"key":"10.1006\/geno.1997.4662_GE974662C2","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/ng0194-98","article-title":"Isolation of genes from complex sources of mammalian genomic DNA using exon amplification","volume":"6","author":"Church","year":"1994","journal-title":"Nature Genet."},{"key":"10.1006\/geno.1997.4662_GE974662C3","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1136\/jmg.31.12.922","article-title":"X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)","volume":"31","author":"Dahl","year":"1994","journal-title":"J. Med. Genet."},{"key":"10.1006\/geno.1997.4662_GE974662C4","first-page":"1108","article-title":"Myotubular myopathy in a girl with a deletion at Xq27\u2013q28 and unbalanced X inactivation assigns the MTM1 gene to a 600 kb region","volume":"56","author":"Dahl","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1006\/geno.1997.4662_GE974662C5","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1007\/s004390050185","article-title":"X-linked myotubular myopathy: Refinement of the gene to a 280 kb region with new and highly informative microsatellite markers","volume":"98","author":"Hu","year":"1996","journal-title":"Hum. Genet."},{"key":"10.1006\/geno.1997.4662_GE974662C6","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/hmg\/5.1.139","article-title":"Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region","volume":"5","author":"Hu","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1006\/geno.1997.4662_GE974662C7","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1006\/geno.1996.0212","article-title":"A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy","volume":"33","author":"Kioschis","year":"1996","journal-title":"Genomics"},{"key":"10.1006\/geno.1997.4662_GE974662C8","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng0696-175","article-title":"A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast","volume":"13","author":"Laporte","year":"1996","journal-title":"Nature Genet."},{"key":"10.1006\/geno.1997.4662_GE974662C9","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/0092-8674(95)90450-6","article-title":"Autoregulatory frameshifting in decoding mamalian ornithine decarboxylase antizyme","volume":"80","author":"Matsufuji","year":"1995","journal-title":"Cell"},{"key":"10.1006\/geno.1997.4662_GE974662C10","doi-asserted-by":"crossref","first-page":"3233","DOI":"10.1073\/pnas.88.8.3233","article-title":"Construction, arraying and high-density screening of large insert libraries of human chromosomes X and 21: Their potential use as reference libraries","volume":"88","author":"Nizetic","year":"1992","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1006\/geno.1997.4662_GE974662C11","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1093\/hmg\/2.11.1865","article-title":"Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection","volume":"2","author":"Sedlacek","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"10.1006\/geno.1997.4662_GE974662C12","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/mrd.1080390215","article-title":"Basal components of the transcription apparatus (RNA polymerase II, TATA-binding protein) contain activation domains: Is the repetitive C-terminal domain (CTD) of RNA polymerase II a \u201cportable enhancer domain\u201d?","volume":"39","author":"Seipel","year":"1994","journal-title":"Mol. Reprod. Dev."},{"key":"10.1006\/geno.1997.4662_GE974662C13","doi-asserted-by":"crossref","first-page":"5156","DOI":"10.1093\/nar\/22.24.5156","article-title":"Predicting internal exons by oligonucleotide composition and discriminant analysis of splicable open reading frames","volume":"22","author":"Solovyev","year":"1994","journal-title":"Nucleic Acids Res."},{"key":"10.1006\/geno.1997.4662_GE974662C14","doi-asserted-by":"crossref","first-page":"11261","DOI":"10.1073\/pnas.88.24.11261","article-title":"Locating protein-coding regions in human DNA sequences by a multiple sensor-neural approach","volume":"88","author":"Uberbacher","year":"1991","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1006\/geno.1997.4662_GE974662C15","first-page":"241","article-title":"Recognize exons in genomic sequence using GRAIL II","volume":"16","author":"Xu","year":"1994","journal-title":"Genet. Eng. (N. Y.)"}],"container-title":["Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754397946620?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754397946620?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T19:28:29Z","timestamp":1557170909000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0888754397946620"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,5]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1997,5]]}},"alternative-id":["S0888754397946620"],"URL":"https:\/\/doi.org\/10.1006\/geno.1997.4662","relation":{},"ISSN":["0888-7543"],"issn-type":[{"value":"0888-7543","type":"print"}],"subject":[],"published":{"date-parts":[[1997,5]]}}}