{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T07:01:23Z","timestamp":1790146883471,"version":"4.0.1"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[1994,11,29]],"date-time":"1994-11-29T00:00:00Z","timestamp":786067200000},"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":[[1995,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Ornithine carbamoyltransferase (OCT) is a liver\u2010specific enzyme located in the mitochondrial matrix. OCT deficiency is an X\u2010linked disease with a heterogeneous phenotype, even in affected males. We studied two male patients (K.M., K.G.) with early and late onset, respectively. OCT activity was zero in the autopsied liver of patient K.M. and was 6% of control in the biopsied liver of K.G. Sequencing of OCT cDNAs revealed exon 5 skipping in K.M., resulting from a T\u2010to\u2010C transition of the initial dinucleotide of the 5\u2032 splicing donor site of intron 5, and a G\u2010to\u2010T transversion at position +45 in exon 9 (L304F) in K.G., providing three OCT mRNAs of different lengths: a normally spliced transcript, 23 bp insertion of intron 8 and the first 50bp missing within exon 9. Exon 5 skipping and two other aberrant splicings produced stop codons early downstream in mature OCT mRNAs. Expression study of a missense allele, L304F, transfected to cultured Cos 1 cells revealed a 34.4% value of the control. The difference of OCT activities between the patient liver and transfected cells (6% vs. 34%) can be explained by this splicing abnormality.<\/jats:p>","DOI":"10.1007\/bf00710415","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T17:55:07Z","timestamp":1101837307000},"page":"273-282","source":"Crossref","is-referenced-by-count":13,"title":["Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency"],"prefix":"10.1002","volume":"18","author":[{"given":"T.","family":"Matsuura","sequence":"first","affiliation":[{"name":"Department of Pediatrics Kumamoto University School of Medicine  1\u20101\u20101 Honjo Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Hoshide","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University School of Medicine  1\u20101\u20101 Honjo Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Komaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University School of Medicine  1\u20101\u20101 Honjo Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Kiwaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University School of Medicine  1\u20101\u20101 Honjo Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Endo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University School of Medicine  1\u20101\u20101 Honjo Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Neonatal Medical Center Kumamoto Municipal Hospital  Kumamoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Jitosho","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kagoshima Municipal Hospital  Kagoshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University School of Medicine  1\u20101\u20101 Honjo Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1994,11,29]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"629","volume-title":"The Metabolic Basis of Inherited Disease","author":"Brusilow SW","year":"1989"},{"key":"e_1_2_1_3_1","first-page":"1105","article-title":"Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency","volume":"48","author":"Carstens RP","year":"1991","journal-title":"Am J Hum 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