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OTC polypeptide was simultaneously synthesized with a normal molecular size but at a low level (20%) as shown by immunoblotting. The OTC enzyme from the deficient liver exhibited very little catalytic activity (7.2% as compared to the normal subject). These results may support several explanations of this disease such as mutation of the OTC gene promoter leading to a low transcriptional activity or mutation of the encoding sequence which results in a modified translation product but with a normal size. mRNA instability may also occur.<\/jats:p>","DOI":"10.1007\/bf01804385","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T23:58:36Z","timestamp":1119916716000},"page":"29-36","source":"Crossref","is-referenced-by-count":3,"title":["Molecular analysis of a human liver mitochondrial ornithine transcarbamylase deficiency"],"prefix":"10.1002","volume":"14","author":[{"given":"J.\u2010M.","family":"Berrez","sequence":"first","affiliation":[{"name":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire (UA CNRS 531) Universit\u00e9 de Franche\u2010Comt\u00e9  Bescan\u00e7on Cedex 25030 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Bardot","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire (UA CNRS 531) Universit\u00e9 de Franche\u2010Comt\u00e9  Bescan\u00e7on Cedex 25030 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.\u2010C.","family":"Thiard","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire (UA CNRS 531) Universit\u00e9 de Franche\u2010Comt\u00e9  Bescan\u00e7on Cedex 25030 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Alvarez","sequence":"additional","affiliation":[{"name":"INSERM U 56 H\u00f4pital Kremlin Bic\u00eatre  Le Kremlin Bic\u00eatre 94275 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Latruffe","sequence":"additional","affiliation":[{"name":"Laboratoire de Biologie Moleculaire Facult\u00e9 des Sciences Mirande Universit\u00e9 de Bourgogne  BP 138 Dijon 21004 France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1990,3,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(85)91801-7"},{"key":"e_1_2_1_3_1","first-page":"209","article-title":"Purification of mouse immunoglobulin heavy chain messenger RNAs from total myeloma tumor RNA","volume":"109","author":"Auffray C.","year":"1980","journal-title":"Eur. 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