Frequency distribution of the Q188R mutation in the Irish galactosaemic population

Abstract

Journal of Inherited Metabolic DiseaseVolume 19, Issue 2 p. 217-219 Short Communication Frequency distribution of the Q188R mutation in the Irish galactosaemic population M. Murphy, M. Murphy Department of Biochemistry, The Royal College of Surgeons in Ireland, 123 St Stephens Green, Dublin 2, IrelandSearch for more papers by this authorD. Sexton, D. Sexton Department of Biochemistry, The Royal College of Surgeons in Ireland, 123 St Stephens Green, Dublin 2, IrelandSearch for more papers by this authorC. O'Neill, C. O'Neill Department of Pathology, The Children's Hospital, Dublin, IrelandSearch for more papers by this authorD. T. Croke, D. T. Croke Department of Biochemistry, The Royal College of Surgeons in Ireland, 123 St Stephens Green, Dublin 2, IrelandSearch for more papers by this authorP. D. Mayne, P. D. Mayne Department of Pathology, The Children's Hospital, Dublin, IrelandSearch for more papers by this authorE. R. Naughten, E. R. Naughten Metabolic Unit, The Children's Hospital, Dublin, IrelandSearch for more papers by this author M. Murphy, M. Murphy Department of Biochemistry, The Royal College of Surgeons in Ireland, 123 St Stephens Green, Dublin 2, IrelandSearch for more papers by this authorD. Sexton, D. Sexton Department of Biochemistry, The Royal College of Surgeons in Ireland, 123 St Stephens Green, Dublin 2, IrelandSearch for more papers by this authorC. O'Neill, C. O'Neill Department of Pathology, The Children's Hospital, Dublin, IrelandSearch for more papers by this authorD. T. Croke, D. T. Croke Department of Biochemistry, The Royal College of Surgeons in Ireland, 123 St Stephens Green, Dublin 2, IrelandSearch for more papers by this authorP. D. Mayne, P. D. Mayne Department of Pathology, The Children's Hospital, Dublin, IrelandSearch for more papers by this authorE. R. Naughten, E. R. Naughten Metabolic Unit, The Children's Hospital, Dublin, IrelandSearch for more papers by this author First published: 01 March 1996 https://doi.org/10.1007/BF01799433Citations: 7 Department of Biochemistry, The Royal College of Surgeons in Ireland, 123 St Stephens Green, Dublin 2, Ireland AboutRelatedInformationPDFPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessClose modalShare 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.Citing Literature Volume19, Issue2March 1996Pages 217-219 RelatedInformation RecommendedDistribution of Q188R and N314D mutations in the Hungarian galactosemic populationA. Horváth, P. Gyurus, A. Kis, A. László, Á. Schuler, G. Kosztolányi, B. Melegh, Human MutationMutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effectP. V. JENKINS, H. EGAN, C. KEENAN, E. O’SHEA, O. P. SMITH, B. NOLAN, B. WHITE, J. O’DONNELL, HaemophiliaCystic fibrosis mutation frequencies in an Irish populationJ Devaney, M Glennon, G Farrell, M Ruttledge, T Smith, JA Houghton, M Maher, Clinical GeneticsAnalysis of RAS mutation in thyroid nodular hyperplasia and follicular neoplasm in a Korean populationSun Hye Jeong, Hyun Sook Hong, Eun Hye Lee, Jeong Ja Kwak, Ji Ye Lee, Endocrinology, Diabetes & Metabolism