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The ornithine transcarbamylase gene: New “Private” mutations in four patients and study of a polymorphism

1994; Wiley; Volume: 3; Issue: 3 Linguagem: Inglês

10.1002/humu.1380030325

1098-1004

Mendel Tuchman, Robert Plante, Yves Giguère, Bernard Lemieux,

Neonatal Health and Biochemistry

Human MutationVolume 3, Issue 3 p. 318-320 Mutation in Brief The ornithine transcarbamylase gene: New “Private” mutations in four patients and study of a polymorphism Mendel Tuchman, Corresponding Author Mendel Tuchman Biochemical Genetics Laboratory, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455; Fax: 612-624-2682Biochemical Genetics Laboratory, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455; Fax: 612-624-2682Search for more papers by this authorRobert J. Plante, Robert J. Plante Biochemical Genetics Laboratory, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455; Fax: 612-624-2682Search for more papers by this authorYves Giguère, Yves Giguère Department of Pediatrics, University of Sherbrooke Medical Center, Sherbrooke, Quebec, Canada J1H 5N4; Fax: 612-624-2682Search for more papers by this authorBernard Lemieux, Bernard Lemieux Department of Pediatrics, University of Sherbrooke Medical Center, Sherbrooke, Quebec, Canada J1H 5N4; Fax: 612-624-2682Search for more papers by this author Mendel Tuchman, Corresponding Author Mendel Tuchman Biochemical Genetics Laboratory, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455; Fax: 612-624-2682Biochemical Genetics Laboratory, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455; Fax: 612-624-2682Search for more papers by this authorRobert J. Plante, Robert J. Plante Biochemical Genetics Laboratory, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455; Fax: 612-624-2682Search for more papers by this authorYves Giguère, Yves Giguère Department of Pediatrics, University of Sherbrooke Medical Center, Sherbrooke, Quebec, Canada J1H 5N4; Fax: 612-624-2682Search for more papers by this authorBernard Lemieux, Bernard Lemieux Department of Pediatrics, University of Sherbrooke Medical Center, Sherbrooke, Quebec, Canada J1H 5N4; Fax: 612-624-2682Search for more papers by this author First published: 1994 https://doi.org/10.1002/humu.1380030325Citations: 8AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I (1988) Structure of the human ornithine transcarbamylase gene. J Biochem 103: 302– 308. Horwich AL, Fenton WA, Williams KR, Kalousek F, Kraus JP, Doolittle RF, Konigsberg W, Rosenberg LE (1984) Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science 224: 1068– 1074. Huygen R, Crabeel M, Glansdorff N (1987) Nucleotide sequence of the ARG3 gene of the yeast Saccharomyces cerevisiae encoding ornithine carbamoyltransferase: Comparison with other carbamoyltransferases. Eur J Biochem 166: 371– 377. Maddalena A, Edward SJ, O'Brien WE, Nussbaum RL (1988) Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. J Clin Invest 82: 1353– 1358. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17: 2503– 2516. Tuchman M (1993) Mutations and polymorphisms in the ornithine transcarbamylase gene. Hum Mut 2: 174– 178. Tuchman M, Holzknecht RA, Gueron AB, Berry SA, Tsai MY (1992) Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformation polymorphism. Pediatr Res 32: 600– 604. Citing Literature Volume3, Issue31994Pages 318-320 ReferencesRelatedInformation