High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients
1995; Wiley; Volume: 6; Issue: 2 Linguagem: Inglês
10.1002/humu.1380060211
ISSN1098-1004
AutoresPaula Gallagher, Pat Ward, Soon Guan Tan, E. R. Naughten, Jan P. Kraus, Grant C. Sellar, David J. McConnell, Ian Graham, Alexander S. Whitehead,
Tópico(s)Metabolism and Genetic Disorders
ResumoHuman MutationVolume 6, Issue 2 p. 177-180 Mutation in Brief High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients Paula M. Gallagher, Paula M. Gallagher Department of Genetics, Trinity College, University of Dublin 2, IrelandSearch for more papers by this authorPat Ward, Pat Ward Clinical Metabolic Unit, the Childrens Hospital, Dublin 1, IrelandSearch for more papers by this authorSoon Tan, Soon Tan Department of Cardiology, Adelaide Hospital, Dublin 8, Ireland; Fax: 353-1-679-8558Search for more papers by this authorEileen Naughten, Eileen Naughten Clinical Metabolic Unit, the Childrens Hospital, Dublin 1, IrelandSearch for more papers by this authorJan P. Kraus, Jan P. Kraus Department of Pediatrics, University of Colorado School of Medicine, Denver, ColoradoSearch for more papers by this authorGrant C. Sellar, Grant C. Sellar Department of Genetics, Trinity College, University of Dublin 2, IrelandSearch for more papers by this authorDavid J. McConnell, David J. McConnell Department of Genetics, Trinity College, University of Dublin 2, IrelandSearch for more papers by this authorIan Graham, Ian Graham Department of Cardiology, Adelaide Hospital, Dublin 8, Ireland; Fax: 353-1-679-8558Search for more papers by this authorAlexander S. Whitehead, Corresponding Author Alexander S. Whitehead Department of Genetics, Trinity College, University of Dublin 2, IrelandDepartment of Genetics, Trinity College, University of Dublin 2, IrelandSearch for more papers by this author Paula M. Gallagher, Paula M. Gallagher Department of Genetics, Trinity College, University of Dublin 2, IrelandSearch for more papers by this authorPat Ward, Pat Ward Clinical Metabolic Unit, the Childrens Hospital, Dublin 1, IrelandSearch for more papers by this authorSoon Tan, Soon Tan Department of Cardiology, Adelaide Hospital, Dublin 8, Ireland; Fax: 353-1-679-8558Search for more papers by this authorEileen Naughten, Eileen Naughten Clinical Metabolic Unit, the Childrens Hospital, Dublin 1, IrelandSearch for more papers by this authorJan P. Kraus, Jan P. Kraus Department of Pediatrics, University of Colorado School of Medicine, Denver, ColoradoSearch for more papers by this authorGrant C. Sellar, Grant C. Sellar Department of Genetics, Trinity College, University of Dublin 2, IrelandSearch for more papers by this authorDavid J. McConnell, David J. McConnell Department of Genetics, Trinity College, University of Dublin 2, IrelandSearch for more papers by this authorIan Graham, Ian Graham Department of Cardiology, Adelaide Hospital, Dublin 8, Ireland; Fax: 353-1-679-8558Search for more papers by this authorAlexander S. Whitehead, Corresponding Author Alexander S. Whitehead Department of Genetics, Trinity College, University of Dublin 2, IrelandDepartment of Genetics, Trinity College, University of Dublin 2, IrelandSearch for more papers by this author First published: 1995 https://doi.org/10.1002/humu.1380060211Citations: 56AboutPDF 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 Brenton DP, Cusworth DC (1971) The response of patients with cystathionine synthase deficiency to pyridoxine. In NAJ Carson, DN Raine (eds): Inherited Disorders of Sulphur Metab olism. London:Churchill Livingstone, p 264. 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Skovby F, Kraus JP, Rosenberg LE (1984c) Homocystinuria: Bio genesis of cystathionine B-synthase subunits in cultured fibro blasts and in an in vitro translation system programmed with fibroblast messenger RNA. Am J Hum Genet 36: 452– 459. Smith CAD, Gough AD, Leigh PN, Summers BA, Harding AE, Maranganore DM, Sturman SG, Schapira AHV, Williams AC, Spurr NK, Wolf CR (1992) Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease. Lancet 339: 1375– 1377. Wall RT, Harlan JM, Harker LA, Striker GE (1980) Homocys-tine-induced endothelial cell injury in vitro: A model for the study of vascular injury. Thromb Res 18: 113– 121. Citing Literature Volume6, Issue21995Pages 177-180 ReferencesRelatedInformation
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