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Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

1996; Wiley; Volume: 8; Issue: 4 Linguagem: Inglês

10.1002/(sici)1098-1004(1996)8

1098-1004

Patrizia Maceratesi, Federica Sangiuolo, Giuseppe Novelli, Paolino Ninfali, Mauro Magnani, Juergen Reichardt, Bruno Dallapiccola,

Amino Acid Enzymes and Metabolism

Human MutationVolume 8, Issue 4 p. 369-372 Mutations in Brief Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency Patrizia Maceratesi, Patrizia Maceratesi Cattedra di Genetica Umana, Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy Cattedra di Genetica Umana, Università Cattolica del Sacro Cuore, 00168 Roma, ItalySearch for more papers by this authorFederica Sangiuolo, Federica Sangiuolo Cattedra di Genetica Umana, Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, ItalySearch for more papers by this authorGiuseppe Novelli, Corresponding Author Giuseppe Novelli Istituto di Chimica Biologica G. Fornaini, e Cattedra di Genetica Università di Urbino, ItalyIstituto di Chimica Biologica G. Fornaini, e Cattedra di Genetica Università di Urbino, Italy; Fax: 39/6/20427313Search for more papers by this authorPaolino Ninfali, Paolino Ninfali Istituto di Chimica Biologica G. Fornaini, e Cattedra di Genetica Università di Urbino, ItalySearch for more papers by this authorMauro Magnani, Mauro Magnani Istituto di Chimica Biologica G. Fornaini, e Cattedra di Genetica Università di Urbino, ItalySearch for more papers by this authorJuergen K.V. Reichardt, Juergen K.V. Reichardt Institute for Genetic Medicine and Department of Biochemistry and Molecular Biology, University of Southern California, School of Medicine, Los Angeles, CaliforniaSearch for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola Cattedra di Genetica Umana, Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, ItalySearch for more papers by this author Patrizia Maceratesi, Patrizia Maceratesi Cattedra di Genetica Umana, Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy Cattedra di Genetica Umana, Università Cattolica del Sacro Cuore, 00168 Roma, ItalySearch for more papers by this authorFederica Sangiuolo, Federica Sangiuolo Cattedra di Genetica Umana, Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, ItalySearch for more papers by this authorGiuseppe Novelli, Corresponding Author Giuseppe Novelli Istituto di Chimica Biologica G. Fornaini, e Cattedra di Genetica Università di Urbino, ItalyIstituto di Chimica Biologica G. Fornaini, e Cattedra di Genetica Università di Urbino, Italy; Fax: 39/6/20427313Search for more papers by this authorPaolino Ninfali, Paolino Ninfali Istituto di Chimica Biologica G. Fornaini, e Cattedra di Genetica Università di Urbino, ItalySearch for more papers by this authorMauro Magnani, Mauro Magnani Istituto di Chimica Biologica G. Fornaini, e Cattedra di Genetica Università di Urbino, ItalySearch for more papers by this authorJuergen K.V. Reichardt, Juergen K.V. Reichardt Institute for Genetic Medicine and Department of Biochemistry and Molecular Biology, University of Southern California, School of Medicine, Los Angeles, CaliforniaSearch for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola Cattedra di Genetica Umana, Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, ItalySearch for more papers by this author First published: 1996 https://doi.org/10.1002/(SICI)1098-1004(1996)8:4 3.0.CO;2-0Citations: 7AboutPDF 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 References Eiresolin N, Comi GP, Fortunato F, Meola G, Gallanti A, Tajana A, Velicogna M, Gonaso EF, Ninfali P, Pifferi S, Scarlato G (1993) Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency. J Neurol 240: 272– 277. Cavalli-Sforza LL, Menozzi P, Piazza A (1994) “ The History and Geography of Human Genes.” Princeton, NJ: Princeton University Press, 518 pp. Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil J, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP (1995) Galactosemia: A strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet 56: 630– 639. Gasparini P, Nunes V, Savoia A, Dognini M, Morral N, Gaona A, Bonizzato A, Chillon M, Sangiuolo F, Novelli G, Dallapiccola B, Pignatti PF, Estivill X (1991) The search for south European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequences. Genomics 10: 193– 200. Ligtenberg MJL, Kemps S, Sarde CO, van Geel BM, Klejer WJ, Barth PG, Mandel JL, van Oost BA, Bolhuis PA (1995) Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet 56: 44– 50. Lin HC, Reichardt JKV (1995) Linkage disequilibrium between a Sacl restriction fragment length polymorphism and two galactosemia mutations. Hum Genet 95: 353– 355. Ng WG, Xu YK, Kaufman FR, Donnel GN, Wolff J, Allen RJ, Koritala S, Reichardt JKV (1994) Biochemical and molecular studies of 132 patients with galactosemia. Hum Genet 94: 359– 363. Reichardt JKV, Woo SLC (1991) Molecular basis of galactosemia: Mutations and polymorphism in the gene encoding human galactose-1-phosphate uridyltransferase. Proc Natl Acad Sci USA 88: 2633– 2637. Reichardt JKV (1992) Genetic basis of galactosemia. Hum Mutat 1: 190– 196. Reichardt JKV, Novelli G, Dallapiccola B (1993) Molecular characterization of the H319Q galactosemia mutation. Hum Mol Genet 2: 325– 326. Segal S (1989) Disorders of galactose metabolism. In CR Scriver, AL Beaudet, WS Sly, D Valle (eds): “ The Metabolic and Molecular Basis of Inherited Disease.” 7th Ed. New York: McGraw-Hill, pp 967– 1000. Citing Literature Volume8, Issue41996Pages 369-372 ReferencesRelatedInformation